2930 lines
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Entry
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- *300610 - HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300610</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300610">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000126945;t=ENST00000316594" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3188" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300610" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000126945;t=ENST00000316594" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001032393,NM_019597" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019597" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300610" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=03022&isoform_id=03022_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HNRNPH2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1684915,2500576,9624998,74099697,119623269,120660030,120660336,194376648,194389792,308219814" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P55795" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3188" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000126945;t=ENST00000316594" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPH2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=HNRNPH2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3188" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/HNRNPH2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3188" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3188" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000316594.6&hgg_start=101408222&hgg_end=101414133&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:5042" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300610[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300610[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/HNRNPH2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000126945" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=HNRNPH2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HNRNPH2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/HNRNPH2" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HNRNPH2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA162391316" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:5042" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0259139.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1201779" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/HNRNPH2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1201779" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3188/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3188" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00022253;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=HNRNPH2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300610
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
HNRPH2<br />
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HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H-PRIME
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HNRNPH2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HNRNPH2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/503?start=-3&limit=10&highlight=503">Xq22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:101408222-101414133&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:101,408,222-101,414,133</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/503?start=-3&limit=10&highlight=503">
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Xq22.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Intellectual developmental disorder, X-linked syndromic, Bain type
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300986"> 300986 </a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/300610" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300610" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The HNRNPH2 gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNPs) family. This family constitutes a set of polypeptides that bind heterogeneous nuclear RNA (hnRNA), the transcripts produced by RNA polymerase II (see <a href="/entry/180660">180660</a>). Proteins in the HNRNP family localize to the nucleus and shuttle pre-mRNA transcripts between the nucleus and cytoplasm for processing and transport. More than 20 such proteins have been described and designated with letters from A to U (summary by <a href="#4" class="mim-tip-reference" title="Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E. <strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong> J. Biol. Chem. 270: 28780-28789, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499401</a>] [<a href="https://doi.org/10.1074/jbc.270.48.28780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7499401">Honore et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7499401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By molecular cDNA cloning, 2-dimensional gel immunoblotting, and amino acid microsequencing, <a href="#4" class="mim-tip-reference" title="Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E. <strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong> J. Biol. Chem. 270: 28780-28789, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499401</a>] [<a href="https://doi.org/10.1074/jbc.270.48.28780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7499401">Honore et al. (1995)</a> identified 3 sequence-unique and distinct proteins that constitute a subfamily of ubiquitously expressed hnRNPs. The identity between hnRNPs H (HNRNPH1; <a href="/entry/601035">601035</a>) and H-prime (HNRNPH2) is 96%, between H and F (HNRNPF; <a href="/entry/601037">601037</a>) is 78%, and between H-prime and F is 75%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7499401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Grammatikakis, I., Zhang, P., Panda, A. C., Kim, J., Maudsley, S., Abdelmohsen, K., Yang, X., Martindale, J. L., Motino, O., Hutchison, E. R., Mattson, M. P., Gorospe, M. <strong>Alternative splicing of neuronal differentiation factor TRF2 regulated by HNRNPH1/H2.</strong> Cell Rep. 15: 926-934, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27117401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27117401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27117401[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2016.03.080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27117401">Grammatikakis et al. (2016)</a> noted that, in rodents, alternative splicing produces a short Trf2 (TERF2; <a href="/entry/602027">602027</a>) variant, Trf2s, that includes only part of exon 7 and is involved in derepression of neuronal genes. Using a proteomic screen of rat cerebellar extracts, <a href="#2" class="mim-tip-reference" title="Grammatikakis, I., Zhang, P., Panda, A. C., Kim, J., Maudsley, S., Abdelmohsen, K., Yang, X., Martindale, J. L., Motino, O., Hutchison, E. R., Mattson, M. P., Gorospe, M. <strong>Alternative splicing of neuronal differentiation factor TRF2 regulated by HNRNPH1/H2.</strong> Cell Rep. 15: 926-934, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27117401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27117401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27117401[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2016.03.080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27117401">Grammatikakis et al. (2016)</a> found that the RNA-binding proteins Hnrnph1 and Hnrnph2 interacted with exon 7 of Trf2 pre-mRNA. The HNRNPH proteins inhibited use of the 5-prime alternative splice site in exon 7, promoting inclusion of exon 7 and thereby increasing the relative levels of full-length Trf2 and lowering Trf2s abundance. HNRNPH protein levels decreased during neuronal differentiation, whereas Trf2s levels increased. CRISPR-mediated deletion of Hnrnph2 accelerated neuronal differentiation. <a href="#2" class="mim-tip-reference" title="Grammatikakis, I., Zhang, P., Panda, A. C., Kim, J., Maudsley, S., Abdelmohsen, K., Yang, X., Martindale, J. L., Motino, O., Hutchison, E. R., Mattson, M. P., Gorospe, M. <strong>Alternative splicing of neuronal differentiation factor TRF2 regulated by HNRNPH1/H2.</strong> Cell Rep. 15: 926-934, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27117401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27117401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27117401[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2016.03.080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27117401">Grammatikakis et al. (2016)</a> concluded that HNRNPH1 and HNRNPH2 repress neuronal differentiation, at least in part, by inhibiting alternative splicing of TRF2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27117401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization (FISH), <a href="#4" class="mim-tip-reference" title="Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E. <strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong> J. Biol. Chem. 270: 28780-28789, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499401</a>] [<a href="https://doi.org/10.1074/jbc.270.48.28780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7499401">Honore et al. (1995)</a> mapped the HNRPH2 gene to either 6q25.3-q26 or Xq22 (or both). <a href="#7" class="mim-tip-reference" title="Vorechovsky, I., Vetrie, D., Holland, J., Bentley, D. R., Thomas, K., Zhou, J.-N., Notarangelo, L. D., Plebani, A., Fontan, G., Ochs, H. D., Hammarstrom, L., Sideras, P., Smith, C. I. E. <strong>Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22.</strong> Genomics 21: 517-524, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959728</a>] [<a href="https://doi.org/10.1006/geno.1994.1310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959728">Vorechovsky et al. (1994)</a> isolated a homologous cDNA by direct cDNA selection using YACs from the region Xq21.3-q22. The FISH mapping by <a href="#4" class="mim-tip-reference" title="Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E. <strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong> J. Biol. Chem. 270: 28780-28789, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499401</a>] [<a href="https://doi.org/10.1074/jbc.270.48.28780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7499401">Honore et al. (1995)</a> placed the signal in the distal part of that segment. However, a specific signal was also observed at 6q25.3-q26, indicating the presence of either 2 genes or a pseudogene. Since the signal was stronger on chromosome 6, <a href="#4" class="mim-tip-reference" title="Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E. <strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong> J. Biol. Chem. 270: 28780-28789, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499401</a>] [<a href="https://doi.org/10.1074/jbc.270.48.28780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7499401">Honore et al. (1995)</a> suggested that this is a functional gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7499401+7959728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 5 unrelated female patients with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; <a href="/entry/300986">300986</a>), <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> identified 2 different de novo heterozygous missense mutations in the HNRNPH2 gene: 3 patients carried the same variant (R206W; <a href="#0001">300610.0001</a>), 1 carried a different mutation at the same residue (R206Q; <a href="#0002">300610.0002</a>), and 1 carried a mutation that was 3 amino acids away (P209L; <a href="#0003">300610.0003</a>). All mutations affected conserved residues in the nuclear localization sequence. The patients were from a large cohort of 2,030 females and 2,486 males with developmental delay and/or intellectual disability who underwent whole-exome sequencing. <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> noted that a sixth female patient with the R206W mutation and a similar phenotype was identified by another laboratory. Functional studies of the variants and studies of patient cells were not performed; however, <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> noted that all mutations affected highly conserved residues in the nuclear localization sequence, and postulated a toxic gain-of-function effect. The authors suggested that these variants may be lethal in males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27545675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy with MRXSB, <a href="#3" class="mim-tip-reference" title="Harmsen, S., Buchert, R., Mayatepek, E., Haack, T. B., Distelmaier, F. <strong>Bain type of X-linked syndromic mental retardation in boys. (Letter)</strong> Clin. Genet. 95: 734-735, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30887513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30887513</a>] [<a href="https://doi.org/10.1111/cge.13524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30887513">Harmsen et al. (2019)</a> identified a hemizygous de novo missense mutation in the HNRNPH2 gene (R206Q; <a href="#0002">300610.0002</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in his mother. The authors stated that this diagnosis should be considered in males with profound developmental delay, intellectual disability, and secondary microcephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30887513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome and Sanger sequencing in 2 boys with MRXSB, <a href="#5" class="mim-tip-reference" title="Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., Huentelman, M. J. <strong>Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. (Letter)</strong> Clin. Genet. 96: 183-185, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31236915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31236915</a>] [<a href="https://doi.org/10.1111/cge.13580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31236915">Jepsen et al. (2019)</a> identified hemizygous mutations in the HNRNPH2 gene. The first boy had the previously identified R206W mutation (<a href="#0001">300610.0001</a>) and the second boy had a novel R114W mutation (<a href="#0004">300610.0004</a>). In the second boy, exome sequencing revealed 7% reference reads and 93% variant reads, suggesting low-level mosaicism for the reference allele. These findings provided further support that this condition is not embryonically lethal in males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31236915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a brother and sister, born to consanguineous Indian parents, with MRXSB, <a href="#6" class="mim-tip-reference" title="Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M., Shukla, A. <strong>Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.</strong> Am. J. Med. Genet. 182A: 183-188, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31670473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31670473</a>] [<a href="https://doi.org/10.1002/ajmg.a.61388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31670473">Somashekar et al. (2020)</a> identified the previously reported R206Q mutation in the HNRNPH2 gene in hemizygous and heterozygous state, respectively. Both parents were found to have the wildtype allele. Identification of a pathogenic variant in HNRNPH2 in another male patient confirmed that this X-linked condition is compatible with postnatal survival in boys. The authors proposed that maternal germline mosaicism was the most likely explanation for the occurrence in sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31670473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300610[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886039763 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886039763;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs886039763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs886039763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 unrelated females with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; <a href="/entry/300986">300986</a>), <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> identified a de novo heterozygous c.616C-T transition (c.616C-T, NM_019597.4) in the HNRNPH2 gene, resulting in an arg206-to-trp (R206W) substitution at a highly conserved residue in the nuclear localization sequence (NLS). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project database and was not found in the ExAC database. <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> noted that a fourth female patient with the R206W mutation and a similar phenotype was identified by another laboratory. Functional studies of the variant and studies of patient cells were not performed, but <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> postulated a toxic gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27545675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in a boy with MRXSB, <a href="#5" class="mim-tip-reference" title="Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., Huentelman, M. J. <strong>Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. (Letter)</strong> Clin. Genet. 96: 183-185, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31236915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31236915</a>] [<a href="https://doi.org/10.1111/cge.13580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31236915">Jepsen et al. (2019)</a> identified the R206W mutation in the HNRNPH2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31236915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886039764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886039764;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs886039764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs886039764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000256185 OR RCV000509012 OR RCV003401124" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000256185, RCV000509012, RCV003401124" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000256185...</a>
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<p>In a girl with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; <a href="/entry/300986">300986</a>), <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> identified a de novo heterozygous c.617G-A transition (c.617G-A, NM_019597.4) in the HNRNPH2 gene, resulting in an arg206-to-gln (R206Q) substitution at a highly conserved residue in the nuclear localization sequence (NLS). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project database and was not found in the ExAC database. Functional studies of the variant and studies of patient cells were not performed, but <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> postulated a toxic gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27545675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome and Sanger sequencing in a boy with MRXSB, <a href="#5" class="mim-tip-reference" title="Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., Huentelman, M. J. <strong>Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. (Letter)</strong> Clin. Genet. 96: 183-185, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31236915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31236915</a>] [<a href="https://doi.org/10.1111/cge.13580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31236915">Jepsen et al. (2019)</a> identified de novo hemizygosity for the R206Q mutation in the HNRNPH2 gene. The mutation was not present in his mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31236915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a brother and sister with MRXSB, who were born to consanguineous Indian parents, <a href="#6" class="mim-tip-reference" title="Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M., Shukla, A. <strong>Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.</strong> Am. J. Med. Genet. 182A: 183-188, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31670473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31670473</a>] [<a href="https://doi.org/10.1002/ajmg.a.61388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31670473">Somashekar et al. (2020)</a> identified hemizygosity and heterozygosity for the R206Q mutation in the HNRNPH2 gene, respectively. Both parents were found to have the wildtype allele. The authors proposed that maternal germline mosaicism was the most likely explanation for occurrence in sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31670473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555988417 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555988417;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1555988417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1555988417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a girl with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; <a href="/entry/300986">300986</a>), <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> identified a de novo heterozygous c.626C-T transition (c.616C-T, NM_019597.4) in the HNRNPH2 gene, resulting in a pro209-to-leu (P209L) substitution at a highly conserved residue in the nuclear localization sequence (NLS). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project database and was not found in the ExAC database. Functional studies of the variant and studies of patient cells were not performed, but <a href="#1" class="mim-tip-reference" title="Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K. <strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong> Am. J. Hum. Genet. 99: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27545675">Bain et al. (2016)</a> postulated a toxic gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27545675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782191163 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782191163;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782191163?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782191163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs782191163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001420155 OR RCV001549775" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001420155, RCV001549775" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001420155...</a>
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<p>By whole-exome sequencing in a boy with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; <a href="/entry/300986">300986</a>), <a href="#5" class="mim-tip-reference" title="Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., Huentelman, M. J. <strong>Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. (Letter)</strong> Clin. Genet. 96: 183-185, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31236915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31236915</a>] [<a href="https://doi.org/10.1111/cge.13580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31236915">Jepsen et al. (2019)</a> identified a hemizygous c.340C-T transition in the HNRNPH2 gene, resulting in an arg114-to-trp (R114W) substitution. Exome sequencing revealed 7% reference reads and 93% variant reads, suggesting low-level mosaicism for the reference allele. The finding was confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31236915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Bain2016" class="mim-anchor"></a>
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Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K.
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<strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong>
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Am. J. Hum. Genet. 99: 728-734, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27545675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27545675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27545675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27545675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.06.028" target="_blank">Full Text</a>]
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Grammatikakis, I., Zhang, P., Panda, A. C., Kim, J., Maudsley, S., Abdelmohsen, K., Yang, X., Martindale, J. L., Motino, O., Hutchison, E. R., Mattson, M. P., Gorospe, M.
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<strong>Alternative splicing of neuronal differentiation factor TRF2 regulated by HNRNPH1/H2.</strong>
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Cell Rep. 15: 926-934, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27117401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27117401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27117401[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27117401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.celrep.2016.03.080" target="_blank">Full Text</a>]
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Harmsen, S., Buchert, R., Mayatepek, E., Haack, T. B., Distelmaier, F.
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<strong>Bain type of X-linked syndromic mental retardation in boys. (Letter)</strong>
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Clin. Genet. 95: 734-735, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30887513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30887513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30887513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13524" target="_blank">Full Text</a>]
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Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E.
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<strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong>
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J. Biol. Chem. 270: 28780-28789, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7499401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., Huentelman, M. J.
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<strong>Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. (Letter)</strong>
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Clin. Genet. 96: 183-185, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31236915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31236915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31236915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13580" target="_blank">Full Text</a>]
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Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M., Shukla, A.
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<strong>Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.</strong>
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Am. J. Med. Genet. 182A: 183-188, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31670473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31670473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31670473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61388" target="_blank">Full Text</a>]
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Vorechovsky, I., Vetrie, D., Holland, J., Bentley, D. R., Thomas, K., Zhou, J.-N., Notarangelo, L. D., Plebani, A., Fontan, G., Ochs, H. D., Hammarstrom, L., Sideras, P., Smith, C. I. E.
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<strong>Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22.</strong>
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Genomics 21: 517-524, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1310" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 12/20/2022
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Cassandra L. Kniffin - updated : 10/05/2016<br>Paul J. Converse - updated : 09/29/2016
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/20/2022<br>alopez : 08/19/2021<br>carol : 07/21/2017<br>carol : 10/07/2016<br>ckniffin : 10/05/2016<br>mgross : 09/29/2016<br>wwang : 08/27/2008<br>joanna : 7/18/2006
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300610
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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HNRPH2<br />
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HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H-PRIME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HNRNPH2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: Xq22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:101,408,222-101,414,133 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xq22.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Intellectual developmental disorder, X-linked syndromic, Bain type
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</span>
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</td>
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<td>
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<span class="mim-font">
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300986
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The HNRNPH2 gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNPs) family. This family constitutes a set of polypeptides that bind heterogeneous nuclear RNA (hnRNA), the transcripts produced by RNA polymerase II (see 180660). Proteins in the HNRNP family localize to the nucleus and shuttle pre-mRNA transcripts between the nucleus and cytoplasm for processing and transport. More than 20 such proteins have been described and designated with letters from A to U (summary by Honore et al., 1995). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By molecular cDNA cloning, 2-dimensional gel immunoblotting, and amino acid microsequencing, Honore et al. (1995) identified 3 sequence-unique and distinct proteins that constitute a subfamily of ubiquitously expressed hnRNPs. The identity between hnRNPs H (HNRNPH1; 601035) and H-prime (HNRNPH2) is 96%, between H and F (HNRNPF; 601037) is 78%, and between H-prime and F is 75%. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Grammatikakis et al. (2016) noted that, in rodents, alternative splicing produces a short Trf2 (TERF2; 602027) variant, Trf2s, that includes only part of exon 7 and is involved in derepression of neuronal genes. Using a proteomic screen of rat cerebellar extracts, Grammatikakis et al. (2016) found that the RNA-binding proteins Hnrnph1 and Hnrnph2 interacted with exon 7 of Trf2 pre-mRNA. The HNRNPH proteins inhibited use of the 5-prime alternative splice site in exon 7, promoting inclusion of exon 7 and thereby increasing the relative levels of full-length Trf2 and lowering Trf2s abundance. HNRNPH protein levels decreased during neuronal differentiation, whereas Trf2s levels increased. CRISPR-mediated deletion of Hnrnph2 accelerated neuronal differentiation. Grammatikakis et al. (2016) concluded that HNRNPH1 and HNRNPH2 repress neuronal differentiation, at least in part, by inhibiting alternative splicing of TRF2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization (FISH), Honore et al. (1995) mapped the HNRPH2 gene to either 6q25.3-q26 or Xq22 (or both). Vorechovsky et al. (1994) isolated a homologous cDNA by direct cDNA selection using YACs from the region Xq21.3-q22. The FISH mapping by Honore et al. (1995) placed the signal in the distal part of that segment. However, a specific signal was also observed at 6q25.3-q26, indicating the presence of either 2 genes or a pseudogene. Since the signal was stronger on chromosome 6, Honore et al. (1995) suggested that this is a functional gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 5 unrelated female patients with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; 300986), Bain et al. (2016) identified 2 different de novo heterozygous missense mutations in the HNRNPH2 gene: 3 patients carried the same variant (R206W; 300610.0001), 1 carried a different mutation at the same residue (R206Q; 300610.0002), and 1 carried a mutation that was 3 amino acids away (P209L; 300610.0003). All mutations affected conserved residues in the nuclear localization sequence. The patients were from a large cohort of 2,030 females and 2,486 males with developmental delay and/or intellectual disability who underwent whole-exome sequencing. Bain et al. (2016) noted that a sixth female patient with the R206W mutation and a similar phenotype was identified by another laboratory. Functional studies of the variants and studies of patient cells were not performed; however, Bain et al. (2016) noted that all mutations affected highly conserved residues in the nuclear localization sequence, and postulated a toxic gain-of-function effect. The authors suggested that these variants may be lethal in males. </p><p>In a boy with MRXSB, Harmsen et al. (2019) identified a hemizygous de novo missense mutation in the HNRNPH2 gene (R206Q; 300610.0002). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in his mother. The authors stated that this diagnosis should be considered in males with profound developmental delay, intellectual disability, and secondary microcephaly. </p><p>By whole-exome and Sanger sequencing in 2 boys with MRXSB, Jepsen et al. (2019) identified hemizygous mutations in the HNRNPH2 gene. The first boy had the previously identified R206W mutation (300610.0001) and the second boy had a novel R114W mutation (300610.0004). In the second boy, exome sequencing revealed 7% reference reads and 93% variant reads, suggesting low-level mosaicism for the reference allele. These findings provided further support that this condition is not embryonically lethal in males. </p><p>In a brother and sister, born to consanguineous Indian parents, with MRXSB, Somashekar et al. (2020) identified the previously reported R206Q mutation in the HNRNPH2 gene in hemizygous and heterozygous state, respectively. Both parents were found to have the wildtype allele. Identification of a pathogenic variant in HNRNPH2 in another male patient confirmed that this X-linked condition is compatible with postnatal survival in boys. The authors proposed that maternal germline mosaicism was the most likely explanation for the occurrence in sibs. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HNRNPH2, ARG206TRP
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs886039763,
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|
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ClinVar: RCV000256179, RCV000509011, RCV000623824, RCV001195298, RCV002273991, RCV002285013
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|
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|
|
|
</span>
|
|
</div>
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated females with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; 300986), Bain et al. (2016) identified a de novo heterozygous c.616C-T transition (c.616C-T, NM_019597.4) in the HNRNPH2 gene, resulting in an arg206-to-trp (R206W) substitution at a highly conserved residue in the nuclear localization sequence (NLS). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project database and was not found in the ExAC database. Bain et al. (2016) noted that a fourth female patient with the R206W mutation and a similar phenotype was identified by another laboratory. Functional studies of the variant and studies of patient cells were not performed, but Bain et al. (2016) postulated a toxic gain-of-function effect. </p><p>By whole-exome sequencing in a boy with MRXSB, Jepsen et al. (2019) identified the R206W mutation in the HNRNPH2 gene. </p>
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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HNRNPH2, ARG206GLN
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<br />
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|
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SNP: rs886039764,
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ClinVar: RCV000256185, RCV000509012, RCV003401124
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a girl with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; 300986), Bain et al. (2016) identified a de novo heterozygous c.617G-A transition (c.617G-A, NM_019597.4) in the HNRNPH2 gene, resulting in an arg206-to-gln (R206Q) substitution at a highly conserved residue in the nuclear localization sequence (NLS). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project database and was not found in the ExAC database. Functional studies of the variant and studies of patient cells were not performed, but Bain et al. (2016) postulated a toxic gain-of-function effect. </p><p>By whole-exome and Sanger sequencing in a boy with MRXSB, Jepsen et al. (2019) identified de novo hemizygosity for the R206Q mutation in the HNRNPH2 gene. The mutation was not present in his mother. </p><p>In a brother and sister with MRXSB, who were born to consanguineous Indian parents, Somashekar et al. (2020) identified hemizygosity and heterozygosity for the R206Q mutation in the HNRNPH2 gene, respectively. Both parents were found to have the wildtype allele. The authors proposed that maternal germline mosaicism was the most likely explanation for occurrence in sibs. </p>
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</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HNRNPH2, PRO209LEU
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<br />
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SNP: rs1555988417,
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ClinVar: RCV000509014, RCV000509057
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a girl with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; 300986), Bain et al. (2016) identified a de novo heterozygous c.626C-T transition (c.616C-T, NM_019597.4) in the HNRNPH2 gene, resulting in a pro209-to-leu (P209L) substitution at a highly conserved residue in the nuclear localization sequence (NLS). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project database and was not found in the ExAC database. Functional studies of the variant and studies of patient cells were not performed, but Bain et al. (2016) postulated a toxic gain-of-function effect. </p>
|
|
</span>
|
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</div>
|
|
|
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
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HNRNPH2, ARG114TRP
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<br />
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|
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SNP: rs782191163,
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gnomAD: rs782191163,
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ClinVar: RCV001420155, RCV001549775
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>By whole-exome sequencing in a boy with the Bain type of X-linked syndromic intellectual developmental disorder (MRXSB; 300986), Jepsen et al. (2019) identified a hemizygous c.340C-T transition in the HNRNPH2 gene, resulting in an arg114-to-trp (R114W) substitution. Exome sequencing revealed 7% reference reads and 93% variant reads, suggesting low-level mosaicism for the reference allele. The finding was confirmed by Sanger sequencing. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., Chung, W. K.
|
|
<strong>Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.</strong>
|
|
Am. J. Hum. Genet. 99: 728-734, 2016.
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[PubMed: 27545675]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.06.028]
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</p>
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</li>
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Grammatikakis, I., Zhang, P., Panda, A. C., Kim, J., Maudsley, S., Abdelmohsen, K., Yang, X., Martindale, J. L., Motino, O., Hutchison, E. R., Mattson, M. P., Gorospe, M.
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Harmsen, S., Buchert, R., Mayatepek, E., Haack, T. B., Distelmaier, F.
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<strong>Bain type of X-linked syndromic mental retardation in boys. (Letter)</strong>
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Honore, B., Rasmussen, H. H., Vorum, H., Dejgaard, K., Liu, X., Gromov, P., Madsen, P., Gesser, B., Tommerup, N., Celis, J. E.
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<strong>Heterogeneous nuclear ribonucleoproteins H, H-prime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes.</strong>
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Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., Huentelman, M. J.
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<strong>Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. (Letter)</strong>
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Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M., Shukla, A.
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Vorechovsky, I., Vetrie, D., Holland, J., Bentley, D. R., Thomas, K., Zhou, J.-N., Notarangelo, L. D., Plebani, A., Fontan, G., Ochs, H. D., Hammarstrom, L., Sideras, P., Smith, C. I. E.
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Sonja A. Rasmussen - updated : 12/20/2022<br>Cassandra L. Kniffin - updated : 10/05/2016<br>Paul J. Converse - updated : 09/29/2016
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