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id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<!-- Create alert and Create RSS are buttons that look like links -->
|
||
<!-- Better for them to look like buttons but no space -->
|
||
<div class="search-links-wrapper content-page-layout">
|
||
<div class="search-links">
|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25644381%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25644381%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 25644381 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 25644381"/>
|
||
<input type="hidden" name="email-subject-hash" value="53143b6fb1872fc963620adb6ab7fd4bf3ec4f337b1e70f97f53c98f6285a54c"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="25644381">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://doi.org/10.1038/mp.2014.193"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3094&itool=Abstract-def&log$=linkouticon&uid=25644381&db=pubmed&nlmid=9607835"
|
||
title="See full text options at Nature Publishing Group"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Nature Publishing Group"
|
||
data-ga-label="25644381"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.nature.com-static-images-logos-nature-portfolio-120.png" alt="Nature Publishing Group full text link"><span class="text">
|
||
|
||
Nature Publishing Group
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25644381/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=25644381&db=pubmed&nlmid=9607835"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="25644381"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/25644381/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/25644381/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="25644381" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25644381%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="kNykvT5DgY0DV0kma7EtI3Xa5Gbeo9euBAip8JyZQzN7PrqcNqhvcbtODKTqhKMO"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
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data-ga-label="G Froyen">G Froyen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium." href="#full-view-affiliation-12" ref="linksrc=author_aff">
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12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium." href="#full-view-affiliation-13" ref="linksrc=author_aff">
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13
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data-ga-label="S G M Frints">S G M Frints</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
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|
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6
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="University François-Rabelais, Tours, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
|
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data-ga-label="T Zemojtel">T Zemojtel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
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2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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2
|
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2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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2
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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1
|
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1
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="M Hambrock">M Hambrock</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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1
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="C Langnick">C Langnick</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
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10
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Feldkamp+M&cauthor_id=25644381"
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data-ga-label="M Feldkamp">M Feldkamp</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
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10
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="W Wissink-Lindhout">W Wissink-Lindhout</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
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9
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Lebrun+N&cauthor_id=25644381"
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data-ga-label="N Lebrun">N Lebrun</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University Paris Descartes, Paris, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Castelnau+L&cauthor_id=25644381"
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data-ga-label="L Castelnau">L Castelnau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University Paris Descartes, Paris, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Rucci+J&cauthor_id=25644381"
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3
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="R Montjean">R Montjean</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University Paris Descartes, Paris, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="O Dorseuil">O Dorseuil</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University Paris Descartes, Paris, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Billuart+P&cauthor_id=25644381"
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data-ga-label="P Billuart">P Billuart</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University Paris Descartes, Paris, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Stuhlmann+T&cauthor_id=25644381"
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data-ga-label="T Stuhlmann">T Stuhlmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
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10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany." href="#full-view-affiliation-11" ref="linksrc=author_aff">
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11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Shaw+M&cauthor_id=25644381"
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data-ga-label="M Shaw">M Shaw</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Corbett+MA&cauthor_id=25644381"
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data-ga-label="M A Corbett">M A Corbett</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gardner+A&cauthor_id=25644381"
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data-ga-label="A Gardner">A Gardner</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Willis-Owen+S&cauthor_id=25644381"
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data-ga-label="S Willis-Owen">S Willis-Owen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="National Heart and Lung Institute, Imperial College London, London, UK." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
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18
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Tan+C&cauthor_id=25644381"
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16
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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19
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="S Belet">S Belet</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
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12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium." href="#full-view-affiliation-13" ref="linksrc=author_aff">
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13
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="K E P van Roozendaal">K E P van Roozendaal</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Jimenez-Pocquet+M&cauthor_id=25644381"
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data-ga-label="M Jimenez-Pocquet">M Jimenez-Pocquet</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
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8
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6
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="University François-Rabelais, Tours, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France." href="#full-view-affiliation-8" ref="linksrc=author_aff">
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8
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6
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="University François-Rabelais, Tours, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France." href="#full-view-affiliation-8" ref="linksrc=author_aff">
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8
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2
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2
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2
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2
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2
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20
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20
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20
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20
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16
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia." href="#full-view-affiliation-19" ref="linksrc=author_aff">
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19
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21
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20
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21
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia." href="#full-view-affiliation-23" ref="linksrc=author_aff">
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23
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Telethon Kids Institute, Perth, WA, Australia." href="#full-view-affiliation-24" ref="linksrc=author_aff">
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24
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25
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data-ga-label="U Müller">U Müller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany." href="#full-view-affiliation-26" ref="linksrc=author_aff">
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26
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="bio.logis Center for Human Genetics, Frankfurt a. M., Germany." href="#full-view-affiliation-27" ref="linksrc=author_aff">
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27
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26
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="bio.logis Center for Human Genetics, Frankfurt a. M., Germany." href="#full-view-affiliation-27" ref="linksrc=author_aff">
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27
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28
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29
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29
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30
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31
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32
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33
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33
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34
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35
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36
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37
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38
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39
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1
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada." href="#full-view-affiliation-40" ref="linksrc=author_aff">
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40
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9
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16
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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10
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany." href="#full-view-affiliation-11" ref="linksrc=author_aff">
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11
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1
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
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10
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1
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data-ga-label="V M Kalscheuer">V M Kalscheuer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup></span>
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Affiliations
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<div class="affiliations">
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<h3 class="title">
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Affiliations
|
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|
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|
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<li data-affiliation-id="full-view-affiliation-1"
|
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><sup class="key">1</sup> Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</li>
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<li data-affiliation-id="full-view-affiliation-2"
|
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id="full-view-affiliation-2"
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><sup class="key">2</sup> Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</li>
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|
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|
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><sup class="key">4</sup> Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-5"
|
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id="full-view-affiliation-5"
|
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><sup class="key">5</sup> Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-6"
|
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id="full-view-affiliation-6"
|
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><sup class="key">6</sup> Inserm U930 'Imaging and Brain', Tours, France.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-7"
|
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id="full-view-affiliation-7"
|
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><sup class="key">7</sup> University François-Rabelais, Tours, France.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-8"
|
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id="full-view-affiliation-8"
|
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><sup class="key">8</sup> Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-9"
|
||
id="full-view-affiliation-9"
|
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><sup class="key">9</sup> Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-10"
|
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id="full-view-affiliation-10"
|
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><sup class="key">10</sup> Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-11"
|
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id="full-view-affiliation-11"
|
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><sup class="key">11</sup> Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-12"
|
||
id="full-view-affiliation-12"
|
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><sup class="key">12</sup> Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-13"
|
||
id="full-view-affiliation-13"
|
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><sup class="key">13</sup> Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-14"
|
||
id="full-view-affiliation-14"
|
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><sup class="key">14</sup> Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-15"
|
||
id="full-view-affiliation-15"
|
||
><sup class="key">15</sup> School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-16"
|
||
id="full-view-affiliation-16"
|
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><sup class="key">16</sup> School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-17"
|
||
id="full-view-affiliation-17"
|
||
><sup class="key">17</sup> Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-18"
|
||
id="full-view-affiliation-18"
|
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><sup class="key">18</sup> National Heart and Lung Institute, Imperial College London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-19"
|
||
id="full-view-affiliation-19"
|
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><sup class="key">19</sup> SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-20"
|
||
id="full-view-affiliation-20"
|
||
><sup class="key">20</sup> Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-21"
|
||
id="full-view-affiliation-21"
|
||
><sup class="key">21</sup> Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-22"
|
||
id="full-view-affiliation-22"
|
||
><sup class="key">22</sup> School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-23"
|
||
id="full-view-affiliation-23"
|
||
><sup class="key">23</sup> Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-24"
|
||
id="full-view-affiliation-24"
|
||
><sup class="key">24</sup> Telethon Kids Institute, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-25"
|
||
id="full-view-affiliation-25"
|
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><sup class="key">25</sup> Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-26"
|
||
id="full-view-affiliation-26"
|
||
><sup class="key">26</sup> Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-27"
|
||
id="full-view-affiliation-27"
|
||
><sup class="key">27</sup> bio.logis Center for Human Genetics, Frankfurt a. M., Germany.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-28"
|
||
id="full-view-affiliation-28"
|
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><sup class="key">28</sup> Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan, Poland.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-29"
|
||
id="full-view-affiliation-29"
|
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><sup class="key">29</sup> Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-30"
|
||
id="full-view-affiliation-30"
|
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><sup class="key">30</sup> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-31"
|
||
id="full-view-affiliation-31"
|
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><sup class="key">31</sup> Institut für Humangenetik, Universitätsklinikum Münster, Muenster, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-32"
|
||
id="full-view-affiliation-32"
|
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><sup class="key">32</sup> Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, España.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-33"
|
||
id="full-view-affiliation-33"
|
||
><sup class="key">33</sup> Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-34"
|
||
id="full-view-affiliation-34"
|
||
><sup class="key">34</sup> Institut für Medizinische Genetik und Angewandte Genomik, Tübingen, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-35"
|
||
id="full-view-affiliation-35"
|
||
><sup class="key">35</sup> Kinderzentrum München, München, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-36"
|
||
id="full-view-affiliation-36"
|
||
><sup class="key">36</sup> Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-37"
|
||
id="full-view-affiliation-37"
|
||
><sup class="key">37</sup> Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-38"
|
||
id="full-view-affiliation-38"
|
||
><sup class="key">38</sup> Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-39"
|
||
id="full-view-affiliation-39"
|
||
><sup class="key">39</sup> Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-40"
|
||
id="full-view-affiliation-40"
|
||
><sup class="key">40</sup> Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
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10
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10
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9
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3
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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4
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3
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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4
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3
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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4
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3
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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4
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3
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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4
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3
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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4
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|
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10
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany." href="#short-view-affiliation-11" ref="linksrc=author_aff">
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11
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16
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#short-view-affiliation-17" ref="linksrc=author_aff">
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17
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16
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#short-view-affiliation-17" ref="linksrc=author_aff">
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17
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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16
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#short-view-affiliation-17" ref="linksrc=author_aff">
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17
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16
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="National Heart and Lung Institute, Imperial College London, London, UK." href="#short-view-affiliation-18" ref="linksrc=author_aff">
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18
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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16
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19
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12
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium." href="#short-view-affiliation-13" ref="linksrc=author_aff">
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13
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14
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands." href="#short-view-affiliation-15" ref="linksrc=author_aff">
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15
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8
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6
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="University François-Rabelais, Tours, France." href="#short-view-affiliation-7" ref="linksrc=author_aff">
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7
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France." href="#short-view-affiliation-8" ref="linksrc=author_aff">
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8
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6
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="University François-Rabelais, Tours, France." href="#short-view-affiliation-7" ref="linksrc=author_aff">
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7
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France." href="#short-view-affiliation-8" ref="linksrc=author_aff">
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8
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2
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2
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2
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2
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2
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20
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20
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20
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20
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16
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia." href="#short-view-affiliation-19" ref="linksrc=author_aff">
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19
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21
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20
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21
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia." href="#short-view-affiliation-22" ref="linksrc=author_aff">
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22
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia." href="#short-view-affiliation-23" ref="linksrc=author_aff">
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23
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Telethon Kids Institute, Perth, WA, Australia." href="#short-view-affiliation-24" ref="linksrc=author_aff">
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24
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data-ga-label="G Gillessen-Kaesbach">G Gillessen-Kaesbach</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany." href="#short-view-affiliation-25" ref="linksrc=author_aff">
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25
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data-ga-label="U Müller">U Müller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany." href="#short-view-affiliation-26" ref="linksrc=author_aff">
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26
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="bio.logis Center for Human Genetics, Frankfurt a. M., Germany." href="#short-view-affiliation-27" ref="linksrc=author_aff">
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27
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data-ga-label="D Steinberger">D Steinberger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany." href="#short-view-affiliation-26" ref="linksrc=author_aff">
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26
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="bio.logis Center for Human Genetics, Frankfurt a. M., Germany." href="#short-view-affiliation-27" ref="linksrc=author_aff">
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27
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28
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href="/?term=Badura-Stronka+M&cauthor_id=25644381"
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data-ga-label="M Badura-Stronka">M Badura-Stronka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland." href="#short-view-affiliation-29" ref="linksrc=author_aff">
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29
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="A Latos-Bieleńska">A Latos-Bieleńska</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland." href="#short-view-affiliation-29" ref="linksrc=author_aff">
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29
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data-ga-label="L B Ousager">L B Ousager</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-30" ref="linksrc=author_aff">
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30
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="P Wieacker">P Wieacker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universitätsklinikum Münster, Muenster, Germany." href="#short-view-affiliation-31" ref="linksrc=author_aff">
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31
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Rodr%C3%ADguez+Criado+G&cauthor_id=25644381"
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data-ga-label="G Rodríguez Criado">G Rodríguez Criado</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, España." href="#short-view-affiliation-32" ref="linksrc=author_aff">
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32
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="M-L Bondeson">M-L Bondeson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden." href="#short-view-affiliation-33" ref="linksrc=author_aff">
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33
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Anner%C3%A9n+G&cauthor_id=25644381"
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data-ga-label="G Annerén">G Annerén</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden." href="#short-view-affiliation-33" ref="linksrc=author_aff">
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33
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="A Dufke">A Dufke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Medizinische Genetik und Angewandte Genomik, Tübingen, Germany." href="#short-view-affiliation-34" ref="linksrc=author_aff">
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34
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Cohen+M&cauthor_id=25644381"
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data-ga-label="M Cohen">M Cohen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Kinderzentrum München, München, Germany." href="#short-view-affiliation-35" ref="linksrc=author_aff">
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35
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data-ga-label="L Van Maldergem">L Van Maldergem</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France." href="#short-view-affiliation-36" ref="linksrc=author_aff">
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36
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="C Vincent-Delorme">C Vincent-Delorme</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille, France." href="#short-view-affiliation-37" ref="linksrc=author_aff">
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37
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38
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data-ga-label="B Simon-Bouy">B Simon-Bouy</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay, France." href="#short-view-affiliation-39" ref="linksrc=author_aff">
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39
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="T Kleefstra">T Kleefstra</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands." href="#short-view-affiliation-9" ref="linksrc=author_aff">
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9
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data-ga-label="M Willemsen">M Willemsen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands." href="#short-view-affiliation-9" ref="linksrc=author_aff">
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9
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data-ga-label="J-P Fryns">J-P Fryns</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium." href="#short-view-affiliation-5" ref="linksrc=author_aff">
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5
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5
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data-ga-label="R Ullmann">R Ullmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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data-ga-label="M Vingron">M Vingron</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-2" ref="linksrc=author_aff">
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2
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data-ga-label="K Wrogemann">K Wrogemann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada." href="#short-view-affiliation-40" ref="linksrc=author_aff">
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40
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="T F Wienker">T F Wienker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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data-ga-label="A Tzschach">A Tzschach</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="H van Bokhoven">H van Bokhoven</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands." href="#short-view-affiliation-9" ref="linksrc=author_aff">
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9
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="J Gecz">J Gecz</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia." href="#short-view-affiliation-16" ref="linksrc=author_aff">
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16
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="T J Jentsch">T J Jentsch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
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|
||
ref="linksrc=author_name_link"
|
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data-ga-label="W Chen">W Chen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ropers+HH&cauthor_id=25644381"
|
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data-ga-label="H-H Ropers">H-H Ropers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kalscheuer+VM&cauthor_id=25644381"
|
||
ref="linksrc=author_name_link"
|
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|
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data-ga-label="V M Kalscheuer">V M Kalscheuer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup></span>
|
||
</div>
|
||
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||
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<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> University Paris Descartes, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Inserm U930 'Imaging and Brain', Tours, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> University François-Rabelais, Tours, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> National Heart and Lung Institute, Imperial College London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Telethon Kids Institute, Perth, WA, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> bio.logis Center for Human Genetics, Frankfurt a. M., Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan, Poland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Institut für Humangenetik, Universitätsklinikum Münster, Muenster, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-32"
|
||
id="short-view-affiliation-32"
|
||
><sup class="key">32</sup> Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, España.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-33"
|
||
id="short-view-affiliation-33"
|
||
><sup class="key">33</sup> Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-34"
|
||
id="short-view-affiliation-34"
|
||
><sup class="key">34</sup> Institut für Medizinische Genetik und Angewandte Genomik, Tübingen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-35"
|
||
id="short-view-affiliation-35"
|
||
><sup class="key">35</sup> Kinderzentrum München, München, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-36"
|
||
id="short-view-affiliation-36"
|
||
><sup class="key">36</sup> Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-37"
|
||
id="short-view-affiliation-37"
|
||
><sup class="key">37</sup> Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-38"
|
||
id="short-view-affiliation-38"
|
||
><sup class="key">38</sup> Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-39"
|
||
id="short-view-affiliation-39"
|
||
><sup class="key">39</sup> Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-40"
|
||
id="short-view-affiliation-40"
|
||
><sup class="key">40</sup> Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
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||
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|
||
|
||
|
||
|
||
|
||
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||
|
||
<ul class="identifiers" id="short-view-identifiers">
|
||
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<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
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|
||
<strong class="current-id" title="PubMed ID">25644381</strong>
|
||
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||
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|
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<span class="identifier pmc">
|
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<span class="id-label">
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PMCID:
|
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|
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|
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<a class="id-link"
|
||
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|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC5414091&id_type=PMC"
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PMC5414091
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|
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|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
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ref="linksrc=article_id_link&article_id=10.1038/mp.2014.193&id_type=DOI"
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|
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|
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10.1038/mp.2014.193
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||
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|
||
|
||
|
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|
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|
||
|
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</li>
|
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|
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<p>
|
||
|
||
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
|
||
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|
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<div class="conflict-of-interest" id="conflict-of-interest">
|
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<h2 class="title">
|
||
Conflict of interest statement
|
||
</h2>
|
||
|
||
<div class="statement">
|
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|
||
|
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|
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">The authors declare no conflict of interest.</p>
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|
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<div class="figures" id="figures">
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<h2 class="title">
|
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Figures
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<div class="figure-caption-contents"><p> Apparently pathogenic <i> CLCN4 </i> mutations identified… </p></div>
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<div class="figure-caption-contents"><p> Apparently pathogenic <i> CLCN4 </i> mutations identified in the screen and functional analysis of the… </p></div>
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Figure 1
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<div class="figure-caption-contents">Apparently pathogenic <i>CLCN4</i> mutations identified in the screen and functional analysis of the missense variants. (<b>a</b>) Pedigrees of families with <i>CLCN4</i> likely pathogenic mutations. Individuals tested for co-segregation with X-linked intellectual disability (XLID) and the results are indicated, *=mutation carrier, wt=subject does not carry the mutation. (<b>b</b>) Current–voltage relationships of the electrogenic Cl<sup>−</sup>/H<sup>+</sup> exchanger protein ClC-4 and its mutants expressed in <i>Xenopus</i> oocytes, shown as mean values of normalized steady-state currents from several oocytes (numbers indicated in figure, in parentheses: number of frogs). Compared with the strongly outwardly-rectifying currents of wild-type ClC-4,<sup>, </sup> currents were much smaller or even absent with CIC-4 mutant proteins carrying p.Gly78Ser, p.Leu221Val, p.Val536Met and p.Gly731Arg substitutions. ctr, non-injected controls; error bars, s.e.m. Two-tailed <i>t</i>-test was used for statistical comparisons (**<i>P</i><0.01, ***<i>P</i><0.001 compared with wild-type ClC-4 currents). (<b>c</b>) Analogous positions of amino acids mutated in ClC-4 highlighted in the crystal structure of CmClC. Amino acids are displayed as spheres in colors like in (<b>b</b>). The small green spheres represent Cl<sup>−</sup> ions. CLC transporters form dimers of identical subunits (shown in different shades) and include a transmembrane domain (TMD) and two cytosolic cystathionine-β-synthase (CBS) domains.</div>
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<div class="figure-caption-contents"><p> Pedigrees of families with co-segregating truncating and missense variants in novel and previously… </p></div>
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<div class="figure-caption-contents">Pedigrees of families with co-segregating truncating and missense variants in novel and previously suggested candidate X-linked intellectual disability (XLID) genes validated through this study. (<b>a</b>) In the postsynaptic density protein <i>CNKSR2</i>, we observed a protein truncating variant in family P180. (<b>b</b>) In <i>FRMPD4</i>, we detected a unique protein truncating variant in family P58 with five affected males. (<b>c</b>) In <i>KLHL15</i>, we identified a protein truncating variant in family D60 with eight affected males. (<b>d</b>) In <i>LAS1L</i>, we found unique missense variants in families MRXS6 (ref. 66) and T50, both with Wilson-Turner (WTS) syndrome. (<b>e</b>) In <i>RLIM</i>, we identified missense variants in three large families D72, T11 and AU31. (<b>f</b>) In <i>USPX27</i>, we found a protein truncating variant in family D177 and a missense variant in family L75. (<b>g</b>) In the novel candidate XLID gene <i>CDK16</i>, we detected a protein truncating variant in family L56. (<b>h</b>) In the novel candidate XLID gene <i>TAF1</i>, we identified missense variants in families D185 and N67. *=mutation carrier, wt=wild type.</div>
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<div class="figure-caption-contents"><p> Effects of <i> Clcn4 </i> or <i> Cnksr2… </i> </p></div>
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<div class="figure-caption-contents"><p> Effects of <i> Clcn4 </i> or <i> Cnksr2 </i> downregulation on morphology of mouse hippocampal neurons. Typical… </p></div>
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Figure 3
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<div class="figure-caption-contents">Effects of <i>Clcn4</i> or <i>Cnksr2</i> downregulation on morphology of mouse hippocampal neurons. Typical arborization of GFP-labeled neurons cultured for 18 days <i>in vitro</i> (DIV) after targeting by non-silencing (NS) or gene-specific shRNA (<i>Clcn4</i> or <i>Cnksr2</i>) at 11 DIV. Quantification of transfected neurons, for total length of neuritic branches, total number of branches (a branch is considered as the segment between two branching points) and for dendritic branching complexity (levels were quantified per neuron from 1 to 6, each time a branching point is met from nucleus toward the distal part of each dendrite). Detection of co-transfections of shRNA and cDNA encoding plasmids for rescue experiments is shown as overlap of GFP (green) and Halotag (red) signals. <i>Clcn4</i> experiment is shown in (<b>a</b>) and <i>Cnksr2</i> in (<b>c</b>). More than 15 representative cells of each type were analyzed per experiment, with three independent experiments conducted. (<b>b</b>) Quantification of neuritic arborization in GFP expressing primary hippocampal neurons derived from <i>Clcn4</i><sup>+/+</sup> and <i>Clcn4</i><sup>−/−</sup> mice as described above. Two independent experiments with>30 cells per genotype of five wild-type and four knock-out mice were analyzed. ClC-4-deficient neurons showed a significant reduction in the total number and total length of neuritic branches compared with wild-type cells. Average values with s.e.m. are shown (i) in histograms for neuritic length and number of branches and (ii) in curves for complexity levels of branching. Mann-Whitney and Chi2 tests were respectively used for statistical comparisons (ns: non-statistically significant, *<i>P</i><0.05, **<i>P</i><0.01, ***<i>P</i><0.001). Scale bar represents 10 μm.</div>
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<div class="figure-caption-contents"><p> Novel X-linked intellectual disability (XLID)… </p></div>
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<div class="figure-caption-contents"><p> Novel X-linked intellectual disability (XLID) genes and candidates that emerged from this study… </p></div>
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<div class="figure-caption-contents">Novel X-linked intellectual disability (XLID) genes and candidates that emerged from this study encode components of key cellular protein networks. All available protein–protein interactions involving known intellectual disability (ID) proteins and the proteins likely implicated in XLID identified in this study were first extracted from the literature and then connected into a set of protein–protein interaction networks via the Ingenuity tool. Functional cellular subnetworks were extracted by using the available annotations of the interacting proteins (e.g., defined by functional category ‘translation/transcription') and by performing literature searches. (<b>a</b>) PSD-95 (postsynaptic density protein 95)/Ras/Rho interaction network. CNKSR2 (CNK2, MAGUIN1, validated XLID protein) that likely functions as an adapter protein or regulator of Ras signaling pathways interacts with PSD-95 in synaptosomes. FRMPD4 (Preso, validated XLID protein), which is a positive regulator of dendritic spine morphogenesis and density and is required for the maintenance of excitatory synaptic transmission, interacts with PSD-95, and together with its binding partner ARHGEF7 (βPix) localizes in dendritic growth cones. (<b>b</b>) Transcriptional/translational interaction network. Known protein complexes are highlighted. RNA Polymerase II (RNAPII) complex with the core component TAF1 (novel candidate XLID protein). ATN1 (known ID protein) interacts with TAF4 and negatively regulates transcription of RNAPII. Large ribosomal subunit (60S) contains RPL10 (known candidate XLID/autism protein). LAS1L (novel XLID protein) is essential for the biogenesis of the ribosomal subunit 60S. Eukaryotic translation initiation factor, EIF2S3 (novel XLID protein), is a component of the translation initiation complex and promotes binding of the initiator methionyl-tRNA to the 40S ribosomal subunit. POLDIP3 (SKAR), involved in positive regulation of translation, associates with THOC2 (novel XLID protein) as a part of the TREX complex (functioning in mRNA export), with mRNA surveillance factor UPF3B (known XLID protein), as well as with a core component of the exon junction complex, EIF4A3. CDK16 (novel candidate XLID protein) and Synapsin 1 (Syn1, known XLID protein) were shown to interact in a membrane fraction from brain. Cdk16 associates with 14-3-3 zeta in Neuro-2A cells. Mediator complex, which functions as a transcriptional coactivator, contains MED12 (known XLID protein) and MED13L (known ID protein). NIPBL (known ID protein) is involved in loading of cohesin and associates with the mediator-cohesin complex, which interfaces gene expression and chromatin structure. Histone methyltransferase MLL2 (known ID protein) associates with a core component of Pol II, POLR2B, and activates transcription. Deubiquitinating enzyme USP27X (novel XLID protein) interacts with USP22 that is required for histone deubiquitination, and which associates together with TAF10 as part of the TBP-free TAF complex (TFTC). ADRA2B, G-protein coupled receptor, by interacting with EIF2B and 14-3-3 zeta links G protein-mediated signaling network and cellular control of protein synthesis. (<b>c</b>) Ubiquitination interaction network. KLHL15 (validated XLID protein) with a function in protein ubiquitination interacts with a component of an ubiquitin E3 ligase, CUL3. RLIM (novel XLID protein) is an E3 ubiquitin protein ligase and associates with UBE2D1.</div>
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[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
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Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet 2005; 6: 46–57.
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de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007; 28: 207–208.
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Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009; 41: 535–543.
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Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK et al. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 2010; 87: 173–188.
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Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet 2010; 42: 486–488.
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Chloride Channels / metabolism
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Chloride Channels / metabolism"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Chloride+Channels%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Chloride+Channels%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Chloride Channels/metabolism"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Chloride+Channels"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Cohort Studies"
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aria-expanded="false"
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data-pinger-ignore>
|
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Cohort Studies
|
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</button><div id="keyword-actions-mesh-terms-7"
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Cohort Studies"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Cohort+Studies%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Cohort+Studies%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Cohort Studies"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Cohort+Studies"
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data-ga-action="mesh_term_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-ga-action="add_to_search"
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data-ga-label=""Cohort Studies"[MeSH]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Cyclin-Dependent Kinases / genetics"
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aria-expanded="false"
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Cyclin-Dependent Kinases / genetics
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</button><div id="keyword-actions-mesh-terms-8"
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hidden
|
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aria-label="Dropdown menu for keyword Cyclin-Dependent Kinases / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Cyclin-Dependent+Kinases%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Cyclin-Dependent+Kinases%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Cyclin-Dependent Kinases/genetics"[MeSH]"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Cyclin-Dependent+Kinases"
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data-ga-category="search_mesh"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Cyclin-Dependent Kinases/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Cyclin-Dependent Kinases/genetics"[MeSH]"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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aria-label="Toggle dropdown menu for keyword Genetic Variation*"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-major-9"
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aria-expanded="false"
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data-pinger-ignore>
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Genetic Variation*
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</button><div id="keyword-actions-mesh-terms-major-9"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Genetic Variation*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Genetic+Variation%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genetic+Variation%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Variation"[MAJR]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Genetic Variation*">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Variation"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Genetic Variation"[MAJR]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Genetic Variation"[MAJR]"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword High-Throughput Nucleotide Sequencing"
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
|
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High-Throughput Nucleotide Sequencing
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</button><div id="keyword-actions-mesh-terms-10"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword High-Throughput Nucleotide Sequencing"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22High-Throughput+Nucleotide+Sequencing%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22High-Throughput+Nucleotide+Sequencing%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="High-Throughput Nucleotide Sequencing"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=High-Throughput+Nucleotide+Sequencing"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
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data-search-term=""High-Throughput Nucleotide Sequencing"[MeSH]"
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data-ga-category="search"
|
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data-ga-action="add_to_search"
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data-ga-label=""High-Throughput Nucleotide Sequencing"[MeSH]"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Histone Acetyltransferases / genetics"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-11"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Histone Acetyltransferases / genetics
|
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</button><div id="keyword-actions-mesh-terms-11"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Histone Acetyltransferases / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Histone+Acetyltransferases%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Histone+Acetyltransferases%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Histone Acetyltransferases/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Histone Acetyltransferases / genetics">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Histone+Acetyltransferases"
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data-ga-category="search_mesh"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
|
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data-search-term=""Histone Acetyltransferases/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Humans"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-12"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Humans
|
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</button><div id="keyword-actions-mesh-terms-12"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
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data-ga-category="search_mesh"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Humans"[MeSH]"
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data-ga-category="search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Intracellular Signaling Peptides and Proteins / genetics"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-13"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Intracellular Signaling Peptides and Proteins / genetics
|
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</button><div id="keyword-actions-mesh-terms-13"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Intracellular Signaling Peptides and Proteins / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Intracellular+Signaling+Peptides+and+Proteins%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Intracellular+Signaling+Peptides+and+Proteins%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Intracellular Signaling Peptides and Proteins/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Intracellular Signaling Peptides and Proteins / genetics">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Intracellular+Signaling+Peptides+and+Proteins"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Intracellular Signaling Peptides and Proteins/genetics"[MeSH]"
|
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data-ga-category="search"
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data-ga-action="add_to_search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Male"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-14"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Male
|
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</button><div id="keyword-actions-mesh-terms-14"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
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data-ga-category="search_mesh"
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Male"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Mice, Knockout"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-15"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Mice, Knockout
|
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</button><div id="keyword-actions-mesh-terms-15"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Mice, Knockout"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Mice%2C+Knockout%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Mice%2C+Knockout%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Mice, Knockout"[MeSH]"
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data-ga-label="Mice, Knockout">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Mice%2C+Knockout"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Microfilament Proteins / genetics"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-16"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Microfilament Proteins / genetics
|
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</button><div id="keyword-actions-mesh-terms-16"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Microfilament Proteins / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Microfilament+Proteins%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Microfilament+Proteins%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Microfilament Proteins/genetics"[MeSH]"
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Neurons / metabolism
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Neurons / pathology
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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Ubiquitin-Protein Ligases / genetics
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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X-Linked Intellectual Disability / genetics*
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</div>
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<div id="substances" class="substances keywords-section">
|
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<h2 class="title">
|
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Substances
|
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</h2>
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<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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Adaptor Proteins, Signal Transducing
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CLC-5 chloride channel
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ref="linksrc=search_in_pubmed_keyword_link&keyword="CLC-5 chloride channel"[nm]"
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data-ga-action="substance"
|
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data-ga-label="CLC-5 chloride channel">
|
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Search in PubMed
|
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=%22CLC-5+chloride+channel%22"
|
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data-ga-category="search_mesh"
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data-ga-label="CLC-5 chloride channel">
|
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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ref="linksrc=add_to_search_link"
|
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|
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data-search-term=""CLC-5 chloride channel"[nm]"
|
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data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""CLC-5 chloride channel"[nm]"
|
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword CLCN4 protein, human"
|
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tabindex="0"
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aria-controls="keyword-actions-substances-2"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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CLCN4 protein, human
|
||
</button><div id="keyword-actions-substances-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword CLCN4 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22CLCN4+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22CLCN4+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&keyword="CLCN4 protein, human"[nm]"
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data-ga-label="CLCN4 protein, human">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""CLCN4 protein, human"[nm]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword CNKSR2 protein, human"
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aria-expanded="false"
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CNKSR2 protein, human
|
||
</button><div id="keyword-actions-substances-3"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword CNKSR2 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22CNKSR2+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22CNKSR2+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&keyword="CNKSR2 protein, human"[nm]"
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data-ga-action="substance"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""CNKSR2 protein, human"[nm]"
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data-ga-category="search"
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data-ga-label=""CNKSR2 protein, human"[nm]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Chloride Channels"
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tabindex="0"
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|
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aria-expanded="false"
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data-pinger-ignore>
|
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Chloride Channels
|
||
</button><div id="keyword-actions-substances-4"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Chloride Channels"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Chloride+Channels%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Chloride+Channels%22%5Bnm%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&keyword="Chloride Channels"[nm]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Chloride+Channels%22"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Chloride Channels"[nm]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Chloride Channels"[nm]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword FRMPD4 protein, human"
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tabindex="0"
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|
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FRMPD4 protein, human
|
||
</button><div id="keyword-actions-substances-5"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
aria-label="Dropdown menu for keyword FRMPD4 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22FRMPD4+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22FRMPD4+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
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ref="linksrc=search_in_mesh_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""FRMPD4 protein, human"[nm]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""FRMPD4 protein, human"[nm]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Intracellular Signaling Peptides and Proteins"
|
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tabindex="0"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Intracellular Signaling Peptides and Proteins
|
||
</button><div id="keyword-actions-substances-6"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Intracellular Signaling Peptides and Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Intracellular+Signaling+Peptides+and+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Intracellular+Signaling+Peptides+and+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&keyword="Intracellular Signaling Peptides and Proteins"[nm]"
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data-ga-label="Intracellular Signaling Peptides and Proteins">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Intracellular Signaling Peptides and Proteins"[nm]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Intracellular Signaling Peptides and Proteins"[nm]"
|
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword KLHL15 protein, human"
|
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
|
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KLHL15 protein, human
|
||
</button><div id="keyword-actions-substances-7"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword KLHL15 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22KLHL15+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22KLHL15+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&keyword="KLHL15 protein, human"[nm]"
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Search in PubMed
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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|
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data-search-term=""KLHL15 protein, human"[nm]"
|
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""KLHL15 protein, human"[nm]"
|
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href="#">
|
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Las1L protein, human"
|
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tabindex="0"
|
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aria-controls="keyword-actions-substances-8"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Las1L protein, human
|
||
</button><div id="keyword-actions-substances-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Las1L protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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data-href="/?term=%22Las1L+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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|
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data-search-term=""Las1L protein, human"[nm]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Las1L protein, human"[nm]"
|
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|
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Microfilament Proteins"
|
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tabindex="0"
|
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aria-controls="keyword-actions-substances-9"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Microfilament Proteins
|
||
</button><div id="keyword-actions-substances-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Microfilament Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Microfilament+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Microfilament+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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|
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data-search-term=""Microfilament Proteins"[nm]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Microfilament Proteins"[nm]"
|
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|
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Nuclear Proteins"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-substances-10"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Nuclear Proteins
|
||
</button><div id="keyword-actions-substances-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
aria-label="Dropdown menu for keyword Nuclear Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Nuclear+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Nuclear+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Nuclear Proteins"[nm]"
|
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword RNA, Messenger"
|
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tabindex="0"
|
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|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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RNA, Messenger
|
||
</button><div id="keyword-actions-substances-11"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword RNA, Messenger"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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data-ga-action="add_to_search"
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data-ga-label=""RNA, Messenger"[nm]"
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href="#">
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Add to Search
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<div id="related-links" class="related-links">
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<h2 class="title">
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Related information
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</h2>
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<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&from_uid=25644381"
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Cited in Books
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ClinVar
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Gene
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MedGen
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25644381&ordinalpos=1&linkpos=5">
|
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MedGen (Bookshelf cited)
|
||
</a></li><li><a title="Published Nucleotide sequences" href="https://www.ncbi.nlm.nih.gov/nuccore?linkname=pubmed_nuccore&from_uid=25644381"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25644381&ordinalpos=1&linkpos=6">
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Nucleotide
|
||
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=25644381"
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OMIM (cited)
|
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|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25644381&ordinalpos=1&linkpos=8">
|
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Protein
|
||
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=25644381"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25644381&ordinalpos=1&linkpos=9">
|
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Protein (RefSeq)
|
||
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&from_uid=25644381"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25644381&ordinalpos=1&linkpos=10">
|
||
SNP
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="linkout" class="linkout">
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<h2 class="title">
|
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LinkOut - more resources
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</h2>
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|
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<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
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href="http://hdl.handle.net/10668/9606"
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