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598 lines
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118 KiB
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<!-- SearchBar -->
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pmc" selected="selected" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="nuccore">Nucleotide</option><option value="books">Books</option><option value="gene" class="last">Gene</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search PMC. Use up and down arrows to choose an item from the autocomplete." value=""Hum Mutat"[jour]" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'pmc-search-autocomplete',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=pmc&qk=85769" id="SaveSearch">Create alert</a></li><li><a href="/pmc/journals/">Journal List</a></li><li><a href="/pmc/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/books/NBK3825">Help</a></li></ul></div>
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<input name="EntrezSystem2.PEntrez.PMC.Pmc_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
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<div><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailReport" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailFormat" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailCount" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailStart" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSort" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Email" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSubject" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailText" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailQueryKey" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailHID" sid="1" type="hidden" value="169a0gtAfjtWpr8bxqIOOX_WAMOVyafD7XC-2IPw2H" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.QueryDescription" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Key" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Answer" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Holding" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingFft" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingNdiSet" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.OToolValue" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.SubjectList" sid="1" type="hidden" value="" /></div><!-- hidden inputs -->
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</div>
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<div id="faceted_search" class="col two_col">
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<h2 class="offscreen_noflow">Result Filters</h2>
|
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<div class="facet_cont" data-db="pmc" data-default_grps="fg_types,fg_text_availability,fg_pubdate,fg_funding" data-sd="db:'pmc',op:'search',term:'%22Hum%20Mutat%22%5Bjour%5D',qk:'85769',linkname:'',idsfromresult:'',extra:''"><ul class="facet" data-filter_id="types" id="_types"><li class="filter_grp "><div class="clearfix"><h3>Article attributes</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="associateddata">Associated Data</a></li><li class="fil_val"><a href="#" data-value_id="manuscripts">Author manuscripts</a></li><li class="fil_val"><a href="#" data-value_id="digitazed">Digitized back issues</a></li><li class="fil_val"><a href="#" data-value_id="medline">MEDLINE journals</a></li><li class="fil_val"><a href="#" data-value_id="openaccess">Open access</a></li><li class="fil_val"><a href="#" data-value_id="preprint">Preprints</a></li><li class="fil_val"><a href="#" data-value_id="retracted">Retracted</a></li></ul></li></ul><ul class="facet" data-filter_id="text_availability" id="_text_availability"><li class="filter_grp "><div class="clearfix"><h3>Text availability</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="embargoed">Include embargoed articles</a></li></ul></li></ul><ul class="facet" data-filter_id="pubdate" data-ds="yes" id="_pubdate"><li class="filter_grp"><div class="clearfix"><h3>Publication date</h3><a href="#" data-value_id="" class="clear clear_hide">clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="y_1">1 year</a></li><li class="fil_val"><a href="#" data-value_id="y_5">5 years</a></li><li class="fil_val"><a href="#" data-value_id="y_10">10 years</a></li><li class="daterange"><a id="facet_date_rangepubdate" href="#facet_date_range_divpubdate" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'">
|
||
Custom range...</a></li><div id="facet_date_range_divpubdate" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Custom date range</h4><div><label class="offscreen_noflow" for="facet_date_st_yearpubdate">Start Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_st_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_monthpubdate">Start Month</label><input type="text" size="2" placeholder="MM" id="facet_date_st_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_daypubdate">Start Day</label><input type="text" size="2" placeholder="DD" id="facet_date_st_daypubdate" value="" /><span>to</span><label class="offscreen_noflow" for="facet_date_end_yearpubdate">End Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_end_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_monthpubdate">End Month</label><input type="text" size="2" placeholder="MM" id="facet_date_end_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_daypubdate">End Day</label><input type="text" size="2" placeholder="DD" id="facet_date_end_daypubdate" value="" /></div><div class="actions clearfix"><button class="jig-ncbibutton primary-action btn_date_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'" id="facet_date_range_applypubdate">Apply</button><button class="jig-ncbibutton secondary-action btn_date_clear" data-jigconfig="'color': 'ui-ncbibutton-gray'" id="facet_date_range_clearpubdate">Clear</button></div></div></ul></li></ul><ul class="facet" data-filter_id="funding" id="_funding"><li class="filter_grp "><div class="clearfix"><h3>Research Funder</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="funder_nih">NIH</a></li><li class="fil_val"><a href="#" data-value_id="funder_ahrq">AHRQ</a></li><li class="fil_val"><a href="#" data-value_id="funder_acl">ACL</a></li><li class="fil_val"><a href="#" data-value_id="funder_aspr">ASPR</a></li><li class="fil_val"><a href="#" data-value_id="funder_cdc">CDC</a></li><li class="fil_val"><a href="#" data-value_id="funder_dhs">DHS</a></li><li class="fil_val"><a href="#" data-value_id="funder_epa">EPA</a></li><li class="fil_val"><a href="#" data-value_id="funder_fda">FDA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nasa">NASA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nist">NIST</a></li><li class="fil_val"><a href="#" data-value_id="funder_va">VA</a></li><li class="more"><a href="#funding_more" data-value_id="fetch_more" data-jigconfig=" hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '300px'">Customize ...</a><div style="display:none;" id="funding_more"></div></li></ul></li></ul><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
|
||
Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_types" /><label for="fg_types">Article attributes</label></li><li><input type="checkbox" id="fg_text_availability" /><label for="fg_text_availability">Text availability</label></li><li><input type="checkbox" id="fg_pubdate" data-always_show="yes" /><label for="fg_pubdate">Publication date</label></li><li><input type="checkbox" id="fg_funding" data-always_show="yes" /><label for="fg_funding">Research Funder</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=" /><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.PMC.Facets.BMFacets" sid="1" type="hidden" value="" /></div>
|
||
</div>
|
||
<div id="maincontent" class="col seven_col">
|
||
<div class="content">
|
||
<div class="results_settings"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="2" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="3" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="4" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Sorted by Default order</a></li></ul><div id="display_settings_menu" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="1" value="DocSum" format="" id="DocSum" checked="true" /><label for="DocSum">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="2" value="DocSum" format="text" id="DocSumtext" /><label for="DocSumtext">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="3" value="MEDLINE" format="text" id="MEDLINEtext" /><label for="MEDLINEtext">MEDLINE</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="4" value="uilist" format="text" id="uilisttext" /><label for="uilisttext">PMCID List</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="1" value="5" id="ps5" /><label for="ps5">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="2" value="10" id="ps10" /><label for="ps10">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="3" value="20" id="ps20" checked="true" /><label for="ps20">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="4" value="50" id="ps50" /><label for="ps50">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="5" value="100" id="ps100" /><label for="ps100">100</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="1" value="none" id="none" checked="true" /><label for="none">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="2" value="PubDate" id="PubDate" /><label for="PubDate">Pub Date</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="3" value="Journal" id="Journal" /><label for="Journal">Journal</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="4" value="PmcLiveDate" id="PmcLiveDate" /><label for="PmcLiveDate">PMC Live Date</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
|
||
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<div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10946553" class="ui-helper-hidden-accessible">Select item 10946553</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox10946553" value="10946553" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=10946553&link_uid=10946553&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10946553/" class="view">SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing</a></div><div class="supp"><div class="desc">Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 2308–2323. <span class="">Published online 2022 Nov 20. </span><span class="doi"><span>doi: </span>10.1002/humu.24491</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10946553</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=10946553&link_uid=10946553&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10946553/">Article</a><a ref="ordinalpos=1&ncbi_uid=10946553&link_uid=10946553&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10946553/pdf/HUMU-43-2308.pdf">PDF–2.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9772137" class="ui-helper-hidden-accessible">Select item 9772137</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox9772137" value="9772137" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=9772137&link_uid=9772137&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772137/" class="view">The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals</a></div><div class="supp"><div class="desc">Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 1872–1881. <span class="">Published online 2022 Nov 15. </span><span class="doi"><span>doi: </span>10.1002/humu.24498</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9772137</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=9772137&link_uid=9772137&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772137/">Article</a><a ref="ordinalpos=2&ncbi_uid=9772137&link_uid=9772137&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772137/pdf/HUMU-43-1872.pdf">PDF–1.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10947041" class="ui-helper-hidden-accessible">Select item 10947041</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox10947041" value="10947041" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=10947041&link_uid=10947041&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10947041/" class="view">MicroRNA binding site variation is enriched in psychiatric disorders</a></div><div class="supp"><div class="desc">Michael P. Geaghan, William R. Reay, Murray J. Cairns</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 2153–2169. <span class="">Published online 2022 Oct 23. </span><span class="doi"><span>doi: </span>10.1002/humu.24481</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10947041</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=10947041&link_uid=10947041&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10947041/">Article</a><a ref="ordinalpos=3&ncbi_uid=10947041&link_uid=10947041&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10947041/pdf/HUMU-43-2153.pdf">PDF–1.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9771967" class="ui-helper-hidden-accessible">Select item 9771967</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox9771967" value="9771967" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=9771967&link_uid=9771967&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771967/" class="view">SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL</a></div><div class="supp"><div class="desc">Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Dec 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Dec; 43(12): 2170–2186. <span class="">Published online 2022 Oct 19. </span><span class="doi"><span>doi: </span>10.1002/humu.24482</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9771967</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=9771967&link_uid=9771967&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771967/">Article</a><a ref="ordinalpos=4&ncbi_uid=9771967&link_uid=9771967&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771967/pdf/nihms-1841586.pdf">PDF–679K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10092196" class="ui-helper-hidden-accessible">Select item 10092196</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox10092196" value="10092196" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=10092196&link_uid=10092196&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10092196/" class="view">Destabilization of mutated human PUS3 protein causes intellectual disability</a></div><div class="supp"><div class="desc">Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 2063–2078. <span class="">Published online 2022 Oct 2. </span><span class="doi"><span>doi: </span>10.1002/humu.24471</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10092196</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=10092196&link_uid=10092196&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10092196/">Article</a><a ref="ordinalpos=5&ncbi_uid=10092196&link_uid=10092196&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10092196/pdf/HUMU-43-2063.pdf">PDF–2.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10087778" class="ui-helper-hidden-accessible">Select item 10087778</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox10087778" value="10087778" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=10087778&link_uid=10087778&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10087778/" class="view">Mutation update for the <em>ACTN2</em> gene</a></div><div class="supp"><div class="desc">Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 1745–1756. <span class="">Published online 2022 Sep 27. </span><span class="doi"><span>doi: </span>10.1002/humu.24470</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10087778</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=10087778&link_uid=10087778&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10087778/">Article</a><a ref="ordinalpos=6&ncbi_uid=10087778&link_uid=10087778&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10087778/pdf/HUMU-43-1745.pdf">PDF–1.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10167679" class="ui-helper-hidden-accessible">Select item 10167679</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox10167679" value="10167679" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=10167679&link_uid=10167679&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10167679/" class="view">Long read sequencing and expression studies of <em>AHDC1</em> deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism</a></div><div class="supp"><div class="desc">Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M. Grochowski, Moez Dawood, Michael M. Khayat, He Li, Shoudong Li, Shalini Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M. Muzny, Harsha Doddapaneni, Jennifer E. Posey, James R. Lupski, Aniko Sabo, David R. Murdock, Fritz J. Sedlazeck, Richard A. Gibbs</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Dec 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Dec; 43(12): 2033–2053. <span class="">Published online 2022 Sep 24. </span><span class="doi"><span>doi: </span>10.1002/humu.24461</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10167679</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=10167679&link_uid=10167679&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10167679/">Article</a><a ref="ordinalpos=7&ncbi_uid=10167679&link_uid=10167679&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10167679/pdf/nihms-1879960.pdf">PDF–2.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9771914" class="ui-helper-hidden-accessible">Select item 9771914</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox9771914" value="9771914" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=9771914&link_uid=9771914&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771914/" class="view">Next generation sequencing errors due to genetic variation in <em>WRAP53</em> encoding TCAB1 on chromosome 17</a></div><div class="supp"><div class="desc">Sharon A. Savage, Kristine Jones, Kedest Teshome, Adriana Lori, Lisa J. McReynolds, Marena R. Niewisch</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Dec 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Dec; 43(12): 1856–1859. <span class="">Published online 2022 Sep 24. </span><span class="doi"><span>doi: </span>10.1002/humu.24469</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9771914</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=9771914&link_uid=9771914&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771914/">Article</a><a ref="ordinalpos=8&ncbi_uid=9771914&link_uid=9771914&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771914/pdf/nihms-1836900.pdf">PDF–576K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9826377" class="ui-helper-hidden-accessible">Select item 9826377</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox9826377" value="9826377" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=9826377&link_uid=9826377&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9826377/" class="view">Rapid genome sequencing for pediatrics</a></div><div class="supp"><div class="desc">Jana Jezkova, Sophie Shaw, Nicola V. Taverner, Hywel J. Williams</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Nov; </span>43(11): 1507–1518. <span class="">Published online 2022 Sep 23. </span><span class="doi"><span>doi: </span>10.1002/humu.24466</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9826377</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=9826377&link_uid=9826377&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9826377/">Article</a><a ref="ordinalpos=9&ncbi_uid=9826377&link_uid=9826377&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9826377/pdf/HUMU-43-1507.pdf">PDF–819K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9561063" class="ui-helper-hidden-accessible">Select item 9561063</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox9561063" value="9561063" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=9561063&link_uid=9561063&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9561063/" class="view">Long-read sequencing for molecular diagnostics in constitutional genetic disorders</a></div><div class="supp"><div class="desc">Laura K. Conlin, Erfan Aref-Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Nov 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Nov; 43(11): 1531–1544. <span class="">Published online 2022 Sep 18. </span><span class="doi"><span>doi: </span>10.1002/humu.24465</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9561063</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=9561063&link_uid=9561063&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9561063/">Article</a><a ref="ordinalpos=10&ncbi_uid=9561063&link_uid=9561063&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9561063/pdf/nihms-1835394.pdf">PDF–554K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9772001" class="ui-helper-hidden-accessible">Select item 9772001</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox9772001" value="9772001" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=9772001&link_uid=9772001&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772001/" class="view">A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition</a></div><div class="supp"><div class="desc">DaNae R. Woodard, Steffi Daniel, Emi Nakahara, Ali Abbas, Sophia M. DiCesare, Gracen E. Collier, John D. Hulleman</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Dec 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Dec; 43(12): 1945–1955. <span class="">Published online 2022 Sep 14. </span><span class="doi"><span>doi: </span>10.1002/humu.24452</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9772001</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=9772001&link_uid=9772001&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772001/">Article</a><a ref="ordinalpos=11&ncbi_uid=9772001&link_uid=9772001&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772001/pdf/nihms-1832245.pdf">PDF–1.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9875722" class="ui-helper-hidden-accessible">Select item 9875722</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox9875722" value="9875722" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=9875722&link_uid=9875722&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9875722/" class="view">Long-read HiFi sequencing of <em>NUDT15</em>: Phased full-gene haplotyping and pharmacogenomic allele discovery</a></div><div class="supp"><div class="desc">Erick R. Scott, Yao Yang, Mariana R. Botton, Yoshinori Seki, Keito Hoshitsuki, John Harting, Primo Baybayan, Neal Cody, Paola Nicoletti, Takaya Moriyama, Shreyasee Chakraborty, Jun J. Yang, Lisa Edelmann, Eric E. Schadt, Jonas Korlach, Stuart A. Scott</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Nov 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Nov; 43(11): 1557–1566. <span class="">Published online 2022 Sep 12. </span><span class="doi"><span>doi: </span>10.1002/humu.24457</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9875722</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=9875722&link_uid=9875722&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9875722/">Article</a><a ref="ordinalpos=12&ncbi_uid=9875722&link_uid=9875722&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9875722/pdf/nihms-1856964.pdf">PDF–1.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9772141" class="ui-helper-hidden-accessible">Select item 9772141</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox9772141" value="9772141" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=9772141&link_uid=9772141&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772141/" class="view">A calibrated cell-based functional assay to aide classification of <em>MLH1</em> DNA mismatch repair gene variants</a></div><div class="supp"><div class="desc">Abhijit Rath, Alexander A. Radecki, Kaussar Rahman, Rachel B. Gilmore, Jonathan R. Hudson, Matthew Cenci, Sean V. Tavtigian, James P. Grady, Christopher D. Heinen</div><div class="details"><b>Hum Mutat</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2023 Dec 1.</span><div>Published in final edited form as: <b>Hum Mutat</b>. 2022 Dec; 43(12): 2295–2307. <span class="">Published online 2022 Sep 12. </span><span class="doi"><span>doi: </span>10.1002/humu.24462</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9772141</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=9772141&link_uid=9772141&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772141/">Article</a><a ref="ordinalpos=13&ncbi_uid=9772141&link_uid=9772141&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9772141/pdf/nihms-1834139.pdf">PDF–848K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9771894" class="ui-helper-hidden-accessible">Select item 9771894</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox9771894" value="9771894" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=9771894&link_uid=9771894&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771894/" class="view">Biallelic pathogenic variants in <em>COX11</em> are associated with an infantile‐onset mitochondrial encephalopathy</a></div><div class="supp"><div class="desc">Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 1970–1978. <span class="">Published online 2022 Sep 7. </span><span class="doi"><span>doi: </span>10.1002/humu.24453</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9771894</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=9771894&link_uid=9771894&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771894/">Article</a><a ref="ordinalpos=14&ncbi_uid=9771894&link_uid=9771894&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9771894/pdf/HUMU-43-1970.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9544731" class="ui-helper-hidden-accessible">Select item 9544731</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox9544731" value="9544731" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=9544731&link_uid=9544731&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9544731/" class="view">The <em>MAP3K7</em> gene: Further delineation of clinical characteristics and genotype/phenotype correlations</a></div><div class="supp"><div class="desc">Geeske M. van Woerden, Richelle Senden, Charlotte de Konink, Rossella A. Trezza, Anwar Baban, Jennifer A. Bassetti, Yolande van Bever, Lynne M. Bird, Bregje W. van Bon, Alice S. Brooks, Qiaoning Guan, Eric W. Klee, Carlo Marcelis, Joel M. Rosado, Lisa A. Schimmenti, Amy R. Shikany, Paulien A. Terhal, Kathryn Nicole Weaver, Marja W. Wessels, Hester van Wieringen, Anna C. Hurst, Catherine F. Gooch, Katharina Steindl, Pascal Joset, Anita Rauch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Oct; </span>43(10): 1377–1395. <span class="">Published online 2022 Jul 29. </span><span class="doi"><span>doi: </span>10.1002/humu.24425</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9544731</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=9544731&link_uid=9544731&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9544731/">Article</a><a ref="ordinalpos=15&ncbi_uid=9544731&link_uid=9544731&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9544731/pdf/HUMU-43-1377.pdf">PDF–2.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9542062" class="ui-helper-hidden-accessible">Select item 9542062</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox9542062" value="9542062" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=9542062&link_uid=9542062&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9542062/" class="view">Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency</a></div><div class="supp"><div class="desc">Elena J. Tucker, Niklas Gutfreund, Marc‐Antoine Belaud‐Rotureau, David Gilot, Tiffany Brun, Brianna L. Kline, Katrina M. Bell, Mathilde Domin‐Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L. Ayers, Andrew H. Sinclair, Volker Dötsch, Sylvie Jaillard</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Oct; </span>43(10): 1443–1453. <span class="">Published online 2022 Jul 29. </span><span class="doi"><span>doi: </span>10.1002/humu.24432</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9542062</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=9542062&link_uid=9542062&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9542062/">Article</a><a ref="ordinalpos=16&ncbi_uid=9542062&link_uid=9542062&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9542062/pdf/HUMU-43-1443.pdf">PDF–2.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9796698" class="ui-helper-hidden-accessible">Select item 9796698</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox9796698" value="9796698" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=9796698&link_uid=9796698&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9796698/" class="view">Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation</a></div><div class="supp"><div class="desc">Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Nov; </span>43(11): 1567–1575. <span class="">Published online 2022 Jul 23. </span><span class="doi"><span>doi: </span>10.1002/humu.24440</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9796698</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=9796698&link_uid=9796698&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9796698/">Article</a><a ref="ordinalpos=17&ncbi_uid=9796698&link_uid=9796698&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9796698/pdf/HUMU-43-1567.pdf">PDF–2.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9544292" class="ui-helper-hidden-accessible">Select item 9544292</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox9544292" value="9544292" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=9544292&link_uid=9544292&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9544292/" class="view">Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management</a></div><div class="supp"><div class="desc">Adeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, Estelle Baron, Stéphanie Bonnaud, Florence Kyndt, Marine Arnaud, Damien Minois, Emmanuelle Bourcereau, Aurélie Thollet, Jean‐François Deleuze, Emmanuelle Genin, François Wiart, Jean‐Luc Pasquié, Vincent Galand, Frédéric Sacher, Christian Dina, Richard Redon, Stéphane Bezieau, Jean‐Jacques Schott, Vincent Probst, Julien Barc</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Sep; </span>43(9): 1333–1342. <span class="">Published online 2022 Jul 23. </span><span class="doi"><span>doi: </span>10.1002/humu.24436</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9544292</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=9544292&link_uid=9544292&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9544292/">Article</a><a ref="ordinalpos=18&ncbi_uid=9544292&link_uid=9544292&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9544292/pdf/HUMU-43-1333.pdf">PDF–851K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10084246" class="ui-helper-hidden-accessible">Select item 10084246</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox10084246" value="10084246" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=10084246&link_uid=10084246&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10084246/" class="view">Isolated aneurysmal disease as an underestimated finding in individuals with <em>JAG1</em> pathogenic variants</a></div><div class="supp"><div class="desc">Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Dec; </span>43(12): 1824–1828. <span class="">Published online 2022 Jul 16. </span><span class="doi"><span>doi: </span>10.1002/humu.24433</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10084246</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=10084246&link_uid=10084246&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10084246/">Article</a><a ref="ordinalpos=19&ncbi_uid=10084246&link_uid=10084246&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10084246/pdf/HUMU-43-1824.pdf">PDF–1.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9545859" class="ui-helper-hidden-accessible">Select item 9545859</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox9545859" value="9545859" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=9545859&link_uid=9545859&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9545859/" class="view">Three novel <em>FHL1</em> variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy</a></div><div class="supp"><div class="desc">Josefine d. S. Borch, Thomas Krag, Sonja D. Holm‐Yildiz, Hakan Cetin, Tuva A. Solheim, Freja Fornander, Volker Straub, Morten Duno, John Vissing</div><div class="details"><b>Hum Mutat</b>. <span class="citation-publication-date">2022 Sep; </span>43(9): 1234–1238. <span class="">Published online 2022 Jul 16. </span><span class="doi"><span>doi: </span>10.1002/humu.24415</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9545859</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=9545859&link_uid=9545859&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9545859/">Article</a><a ref="ordinalpos=20&ncbi_uid=9545859&link_uid=9545859&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9545859/pdf/HUMU-43-1234.pdf">PDF–636K</a></div></div></div></div></div>
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||
|
||
</div>
|
||
<div class="title_and_pager bottom">
|
||
<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno2">Page </label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.cPage" id="pageno2" type="text" class="num" sid="6" value="1" last="54" /> of 54</h3><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="8" page="2" accesskey="k" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="9" page="54" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page">Last >></a></div>
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||
</div>
|
||
<div class="results_settings bottom"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set2" data-jigconfig="triggerPosition : 'top center',destPosition : 'bottom center',destSelector : '#display_settings_menu2', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set2 ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="12" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="13" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="14" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Sorted by Default order</a></li></ul><div id="display_settings_menu2" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="21" value="DocSum" format="" id="DocSum2" checked="true" /><label for="DocSum2">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="22" value="DocSum" format="text" id="DocSumtext2" /><label for="DocSumtext2">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="23" value="MEDLINE" format="text" id="MEDLINEtext2" /><label for="MEDLINEtext2">MEDLINE</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="24" value="uilist" format="text" id="uilisttext2" /><label for="uilisttext2">PMCID List</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="11" value="5" id="ps52" /><label for="ps52">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="12" value="10" id="ps102" /><label for="ps102">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="13" value="20" id="ps202" checked="true" /><label for="ps202">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="14" value="50" id="ps502" /><label for="ps502">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="15" value="100" id="ps1002" /><label for="ps1002">100</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="11" value="none" id="none2" checked="true" /><label for="none2">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="12" value="PubDate" id="PubDate2" /><label for="PubDate2">Pub Date</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="13" value="Journal" id="Journal2" /><label for="Journal2">Journal</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="14" value="PmcLiveDate" id="PmcLiveDate2" /><label for="PmcLiveDate2">PMC Live Date</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SetDisplay" sid="2" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto2" data-jigconfig="triggerPosition:'top center', destPosition : 'bottom center',destSelector : '#send_to_menu2', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu2" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu2 input[type='radio']").click( function () {
|
||
var selectedValue = jQuery(this).val().toLowerCase();
|
||
var selectedDiv = jQuery("#send_to_menu2 div." + selectedValue);
|
||
|
||
if(selectedDiv.is(":hidden")){
|
||
jQuery("#send_to_menu2 div.submenu:visible").slideUp();
|
||
selectedDiv.slideDown();
|
||
}
|
||
});
|
||
|
||
});
|
||
|
||
jQuery("#sendto2").bind("ncbipopperclose", function(){
|
||
jQuery("#send_to_menu2 div.submenu:visible").css("display","none");
|
||
jQuery("#send_to_menu2 input[type='radio']:checked").attr("checked",false);
|
||
});
|
||
|
||
</script></h4><div id="send_to_menu2" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="11" value="File" id="dest_File2" /><label for="dest_File2">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="12" value="AddToClipboard" id="dest_AddToClipboard2" /><label for="dest_AddToClipboard2">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="13" value="Mail" id="dest_Mail2" /><label for="dest_Mail2">E-mail</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="14" value="AddToCollections" id="dest_AddToCollections2" /><label for="dest_AddToCollections2">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File2" style="display: none;"><p id="submenu_File_hint2" class="hidden"></p><ul><li><label for="file_format2">Format</label><select id="file_format2" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.FFormat2" sid="101"><option value="DocSum" format="text" selected="selected">Summary (text)</option><option value="MEDLINE" format="text">MEDLINE</option><option value="XML" format="text">XML</option><option value="uilist" format="text">PMCID List</option></select></li><li><label for="file_sort2">Sort by</label><select id="file_sort2" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.FSort2" sid="51"><option value="" selected="selected">Default order</option><option value="PubDate">Pub Date</option><option value="Journal">Journal</option><option value="PmcLiveDate">PMC Live Date</option></select></li></ul><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="11" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu mail" id="submenu_Mail2" style="display: none;"><p id="email_alert2" class="hidden"></p><ul><li id="email_desc2">Search: "Hum Mutat"[jour] </li><li><label for="email_format2">Format</label><select id="email_format2" name="email_format2"><option value="DocSum" selected="selected">Summary</option><option value="DocSum" format="text">Summary (text)</option><option value="MEDLINE" format="text">MEDLINE</option><option value="uilist" format="text">PMCID List</option></select></li><li id="email_sort_option2"><label for="email_sort2">Sort by</label><select id="email_sort2" name="email_sort2"><option value="" selected="selected">Default order</option><option value="PubDate">Pub Date</option><option value="Journal">Journal</option><option value="PmcLiveDate">PMC Live Date</option></select></li><li id="email_count_option2"><label for="email_count2">Number to send</label><select id="email_count2" name="email_count2"><option value="5">5</option><option value="10">10</option><option value="20" selected="selected">20</option><option value="50">50</option><option value="100">100</option></select></li><li id="email_start_option2"><label for="email_start2">Start with item</label><input id="email_start2" name="email_start2" type="text" size="4" value="1" /></li><li><label for="email_address2">E-mail</label><input id="email_address2" value="" name="email_address2" /></li></ul><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="12" class="button_apply email" type="submit" cmd="Mail" qk="85769">E-mail</button><div><a href="/corehtml/query/MyNCBI/exquery/spam_note.html" onclick="window.open('/corehtml/query/MyNCBI/exquery/spam_note.html','','resizable=yes,scrollbars=yes,toolbar=no,location=no,directories=no,status=no,menubar=no,copyhistory=no,alwaysRaised=yes,depend=yes,top=50,left=200,width=550,height=430');return false;">"SPAM" filtering software notice</a></div></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard2" style="display: none;"><p id="submenu_AddToClipboard_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="13" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections2" style="display: none;"><p id="submenu_AddToCollections_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="14" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div></div>
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
<div class="filters app_msg"><p><strong>Filter your results:</strong></p><ul class="portlet_list"><li class="filter_selected"><a title="Total Results">All (1068) </a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter" filter="nih grants" sid="2" href="#" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter">NIH grants (770)</a></li><li><a class="empty_link" title="Embargoed Articles">Embargoed (0)</a></li></ul><ul class="inline_list app_msg_controls"><li><a href="/sites/myncbi/pmc/filters">Manage Filters</a></li></ul><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.CurrFilter" sid="1" type="hidden" value="all" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.LastFilter" sid="1" type="hidden" value="all" /></div>
|
||
|
||
<div class="hidden"></div>
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Find related data</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="RelatedDataLinks" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul class="related">
|
||
<li>
|
||
<label for="rdDatabase">Database: </label>
|
||
<select name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.rdDatabase" sid="1" id="rdDatabase">
|
||
<option value="rddbto">Select</option>
|
||
<option value="bioproject">BioProject</option>
|
||
<option value="books">Books</option>
|
||
<option value="clinvar">ClinVar</option>
|
||
<option value="cdd">Conserved Domains</option>
|
||
<option value="gap">dbGaP</option>
|
||
<option value="gene">Gene</option>
|
||
<option value="gds">GEO DataSets</option>
|
||
<option value="geoprofiles">GEO Profiles</option>
|
||
<option value="medgen">MedGen</option>
|
||
<option value="nuccore">Nucleotide</option>
|
||
<option value="omim">OMIM</option>
|
||
<option value="protein">Protein</option>
|
||
<option value="pcassay">PubChem BioAssay</option>
|
||
<option value="pccompound">PubChem Compound</option>
|
||
<option value="pcsubstance">PubChem Substance</option>
|
||
<option value="pubmed">PubMed</option>
|
||
<option value="snp">SNP</option>
|
||
<option value="sra">SRA</option>
|
||
<option value="structure">Structure</option>
|
||
<option value="taxonomy">Taxonomy</option>
|
||
</select>
|
||
</li>
|
||
<li>
|
||
<div id="rdOption" style="display: none;">
|
||
<label for="rdLinkOption">Option: </label>
|
||
<select name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.rdLinkOption" sid="1" id="rdLinkOption"></select>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
<p id="rdDescr"></p>
|
||
<button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.rdFind" sid="1" id="rdFind" disabled="disabled" class="jig-ncbibutton">Find items</button>
|
||
<input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.DbName" sid="1" type="hidden" id="DbName" value="pmc" />
|
||
<input type="hidden" id="rdqk" value="85769" />
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Search details</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Discovery_SearchDetails" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<textarea name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="pmc">"Hum Mutat"[jour]</textarea>
|
||
<div class="buttonwrap">
|
||
<button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsQuery" sid="1" class="jig-ncbibutton">Search</button>
|
||
</div>
|
||
<a class="seemore" href="/pmc/details?querykey=85769" ref="log$=details">
|
||
See more...
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67db506267c23b31e03ece8d">"Hum Mutat"[jour] <span class="number">(1068)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67db505f67c23b31e03ec6c0">"Clin Case Rep"[jour] <span class="number">(9664)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67db505167c23b31e03eab0e">"Mol Genet Genomic Med"[jour] <span class="number">(2503)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67db504e67c23b31e03ea3af">Homo sapiens chromosome 15, clone RP11-483E23, complete sequence</a>
|
||
<div class="ralinkpop offscreen_noflow">Homo sapiens chromosome 15, clone RP11-483E23, complete sequence<div class="brieflinkpopdesc">gi|22002205|gnl|WIBR|L12376|gb|AC09 15|</div></div>
|
||
<div class="tertiary">Nucleotide</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67db504d84f3725e59b426e2">NT_078095 : NT_078096[pacc] <span class="number">(0)</span></a>
|
||
<div class="tertiary">Nucleotide</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<div class="breadcrumbs">You are here:
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||
<span id="breadcrumb_text"><a href="/guide/">NCBI</a> > <a href="https://www.ncbi.nlm.nih.gov/guide/literature/">Literature</a> > PubMed Central (PMC)</span></div>
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||
<a id="help-desk-link" class="help_desk" href="https://support.ncbi.nlm.nih.gov/ics/support/KBList.asp?Time=2025-03-19T19:16:50-04:00&Snapshot=%2Fprojects%2FPMC%2FPMCEntrez@3.28&Host=portal107&ncbi_phid=CE8EE0197DB48B8100000000009C007E&ncbi_session=CE8BC1E97D9F05E1_0182SID&from=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2F&folderID=132&db=pmc&Ncbi_App=entrez&Page=docsum&style=classic&deptID=28049&report=docsum&querykey=85769&query=%22Hum%20Mutat%22[jour];%20Page%20number:%201;%20Page%20size:%2020&term=%22Hum%20Mutat%22[jour]" rel="noopener noreferrer" target="_blank">Support Center</a>
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