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Entry
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- *614545 - ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 10; EMC10
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- OMIM
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<p>
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<span class="h4">*614545</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#text"><strong>Text</strong></a>
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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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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614545">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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=ENSG00000161671;t=ENST00000334976" 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=284361" 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=614545" 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=ENSG00000161671;t=ENST00000334976" 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_175063,NM_206538" 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_206538" 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=614545" 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://www.proteinatlas.org/search/EMC10" 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/21432049,23271243,37182542,45580696,50949412,54125553,54125557,74708213,89886466,119592277,119592278,119592279,218675529" 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/Q5UCC4" 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=284361" 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=ENSG00000161671;t=ENST00000334976" 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=EMC10" 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=EMC10" 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+284361" 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/EMC10" 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:284361" 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/284361" 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=chr19&hgg_gene=ENST00000334976.11&hgg_start=50476507&hgg_end=50490871&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614545[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 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=614545[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/EMC10/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/ENSG00000161671" 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.ebi.ac.uk/gwas/search?query=EMC10" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=EMC10" 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=EMC10" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EMC10&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/PA162378790" 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:27609" 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/FBgn0052441.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:1916933" 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/EMC10#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:1916933" 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/284361/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=284361" 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=WBGene00012829;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><a href="https://zfin.org/ZDB-GENE-030131-9045" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</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=EMC10&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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614545
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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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ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 10; EMC10
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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">
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|
ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 10<br />
|
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CHROMOSOME 19 OPEN READING FRAME 63; C19ORF63
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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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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
|
HEMATOPOIETIC SIGNAL PEPTIDE-CONTAINING SECRETED PROTEIN 1, INCLUDED; HSS1, INCLUDED
|
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</span>
|
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</div>
|
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<div>
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<span class="h4 mim-font">
|
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|
HEMATOPOIETIC SIGNAL PEPTIDE- AND MEMBRANE DOMAIN-CONTAINING PROTEIN 1, INCLUDED; HSM1, INCLUDED
|
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</span>
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EMC10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EMC10</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/19/985?start=-3&limit=10&highlight=985">19q13.33</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:50476507-50490871&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'})">19:50,476,507-50,490,871</a> </span>
|
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</em>
|
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</strong>
|
|
<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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/985?start=-3&limit=10&highlight=985">
|
|
19q13.33
|
|
</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Neurodevelopmental disorder with dysmorphic facies and variable seizures
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/619264"> 619264 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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|
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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>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/614545" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614545" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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|
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<span class="mim-font">
|
|
<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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<p>The EMC10 gene encodes one of 10 components of the endoplasmic reticulum complex (EMC), which is a highly conserved protein complex related to membrane protein biology (summary by <a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33531666" 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>Using microarray analysis to identify genes differentially expressed in mouse hematopoietic stem cells, followed by database analysis and PCR of mouse and human cDNA libraries, <a href="#2" class="mim-tip-reference" title="Junes-Gill, K. S., Gallaher, T. K., Gluzman-Poltorak, Z., Miller, J. D., Wheeler, C. J., Fan, X., Basile, L. A. <strong>hHSS1: a novel secreted factor suppressor of glioma growth located at chromosome 19q13.33.</strong> J. Neurooncol. 102: 197-211, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20680400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20680400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20680400[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/10.1007/s11060-010-0314-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20680400">Junes-Gill et al. (2011)</a> cloned 2 splice variants of mouse and human C19ORF63, which they called HSM1 and HSS1. The deduced 262- and 254-amino acid human HSM1 and HSS1 proteins are identical for the first 227 amino acids, including an N-terminal signal sequence, an N-glycosylation site, and an O-glycosylation site. HSM1, but not HSS1, has a transmembrane domain near its C terminus. The mouse and human HSS1 proteins share about 86% identity. Qualitative PCR detected HSS1 expression in several brain regions, with highest expression in pituitary. Western blot analysis detected secretion of HSS1 from transfected 293T cells. HSS1 had an apparent molecular mass of 30 kD, larger than the predicted molecular mass of 24.2 kD for mature HSS1. Nuclear staining was also observed in transfected U87 human glioblastoma cells. Database analysis revealed orthologs of C19ORF63 in mammals, invertebrates, and plants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20680400" 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><a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al. (2021)</a> found expression of EMC10 in human infant brain. EMC10 colocalized with MAP2 (<a href="/entry/157130">157130</a>), a nonnuclear protein expressed in mature neurons. NeuN (<a href="/entry/616999">616999</a>), a nuclear marker of mature neurons, also showed colocalization with EMC10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33531666" 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>The A172 and U87 human glioblastoma cell lines have deletions in a region of chromosome 9 corresponding to the C19ORF63 locus. Using RT-PCR, <a href="#2" class="mim-tip-reference" title="Junes-Gill, K. S., Gallaher, T. K., Gluzman-Poltorak, Z., Miller, J. D., Wheeler, C. J., Fan, X., Basile, L. A. <strong>hHSS1: a novel secreted factor suppressor of glioma growth located at chromosome 19q13.33.</strong> J. Neurooncol. 102: 197-211, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20680400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20680400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20680400[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/10.1007/s11060-010-0314-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20680400">Junes-Gill et al. (2011)</a> confirmed that neither cell line expressed HSS1 or HSM1. Transfection of HSS1 partly restored contact inhibition and reduced aggregation of U87 cells. It also suppressed the malignant phenotype of U87 cells in vitro and following injection into immunocompromised mice. Similarly, expression of HSS1 reduced the rate of growth and colony formation in A172 cells. HSS1 expression in U87 cells altered the gene expression profile. Apelin (<a href="/entry/300297">300297</a>) was one of the most downregulated genes, and ADAMTS1 (<a href="/entry/605174">605174</a>) and SIK1 (SNF1LK; <a href="/entry/605705">605705</a>) were among the upregulated genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20680400" 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="Junes-Gill, K. S., Gallaher, T. K., Gluzman-Poltorak, Z., Miller, J. D., Wheeler, C. J., Fan, X., Basile, L. A. <strong>hHSS1: a novel secreted factor suppressor of glioma growth located at chromosome 19q13.33.</strong> J. Neurooncol. 102: 197-211, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20680400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20680400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20680400[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/10.1007/s11060-010-0314-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20680400">Junes-Gill et al. (2011)</a> determined that the C19ORF63 gene contains 8 exons and spans at least 6.8 kb. Exon 7, which is alternatively spliced, and exon 8 contain stop codons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20680400" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Junes-Gill, K. S., Gallaher, T. K., Gluzman-Poltorak, Z., Miller, J. D., Wheeler, C. J., Fan, X., Basile, L. A. <strong>hHSS1: a novel secreted factor suppressor of glioma growth located at chromosome 19q13.33.</strong> J. Neurooncol. 102: 197-211, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20680400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20680400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20680400[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/10.1007/s11060-010-0314-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20680400">Junes-Gill et al. (2011)</a> mapped the C19ORF63 gene to chromosome 19q13.33. They mapped the mouse ortholog to chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20680400" 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 2 sibs, born of consanguineous Arab parents, with neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS; <a href="/entry/619264">619264</a>), <a href="#5" class="mim-tip-reference" title="Umair, M., Ballow, M., Asiri, A., Alyafee, Y., Al Tuwaijri, A., Alhamoudi, KM., Aloraini, T., Abdelhakim, M., Althagafi, A. T., Kafkas, S., Alsubaie, L., Alrifai, M. T., Hoehndorf, R., Alfares, A., Alfadhel, M. <strong>EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.</strong> Clin. Genet. 98: 555-561, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32869858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32869858</a>] [<a href="https://doi.org/10.1111/cge.13842" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32869858">Umair et al. (2020)</a> identified a homozygous splice site mutation in the EMC10 gene (<a href="#0001">614545.0001</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. RT-PCR analysis of patient cells showed decreased EMC10 mRNA levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32869858" 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 12 patients from 7 unrelated consanguineous families of Middle Eastern descent with NEDDFAS, <a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al. (2021)</a> identified a homozygous frameshift mutation in the EMA10 gene (<a href="#0002">614545.0002</a>). The mutation, which was found by whole-exome or whole-genome sequencing at various centers, was confirmed by Sanger sequencing and segregated with the disorder in the families. It was not present in the homozygous state in public databases. Studies of cells derived from some patients and in vitro studies showed that the mutant protein was unstable due to proteasomal degradation. <a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al. (2021)</a> concluded that the mutation resulted in a loss of EMC10 function, which may have detrimental effects on transmembrane protein dynamics in various cell types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33531666" 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><a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygous mutations in the EMC10 gene in 10 patients from 6 unrelated consanguineous families. Five of the mutations were novel (<a href="#0003">614545.0003</a>-<a href="#0007">614545.0007</a>) and one was previously identified (<a href="#0002">614545.0002</a>). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. The mutations were either absent or present at a rare allelic frequency in multiple public and private variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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>Mice carrying a hemizygous 1.3-Mb chromosomal deficiency on chromosome 16 (Df(16)A +/- mice; see <a href="/entry/609030">609030</a>), which is syntenic to the human 1.5-Mb 22q11.2 microdeletion associated with risk of schizophrenia (SCZD; <a href="/entry/181500">181500</a>), have primary cognitive and behavioral deficits related to SCZD due to abnormal processing and levels of brain microRNAs, particularly Mir185 (<a href="/entry/615576">615576</a>). <a href="#1" class="mim-tip-reference" title="Diamantopoulou, A., Sun, Z., Mukai, J., Xu, B., Fenelon, K., Karayiorgou, M., Gogos, J. A. <strong>Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.</strong> Proc. Nat. Acad. Sci. 114: E6127-E6136, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28696314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28696314</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28696314[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/10.1073/pnas.1615719114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28696314">Diamantopoulou et al. (2017)</a> demonstrated that upregulated levels of Emc10, a target of Mir185, in postnatal brain was a significant contributor to the SCZD phenotype in Df(16)A +/- mice. Genetic normalization of Emc10 levels in Df(16)A +/- mice prevented key SCZ-related deficits in prepulse inhibition, working memory-dependent learning, and social memory, but it failed to rescue hyperactivity and fear memory deficits. Furthermore, Emc10 knockout and overexpression had dissociable effects on cognition and behavior of mice. Mechanistically, reduction of Emc10 levels in Df(16)A +/- mice rescued synaptic plasticity deficits in the prefrontal cortex (PFC) and prevented structural alterations in the PFC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28696314" 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><a href="#6" class="mim-tip-reference" title="Zhou, Y., Wu, F., Zhang, M., Xiong, Z., Yin, Q., Ru, Y., Shi, H., Li, J., Mao, S., Li, Y., Cao, X., Hu, R., Liew, C. W., Ding, Q., Wang, X., Zhang, Y. <strong>EMC10 governs male fertility via maintaining sperm ion balance.</strong> J. Molec. Cell Biol. 10: 503-514, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29659949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29659949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29659949[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/10.1093/jmcb/mjy024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29659949">Zhou et al. (2018)</a> found that Emc10 -/- mice had normal survival rate, appearance, and gross behavior compared with wildtype. However, Emc10 -/- males were completely infertile, and females exhibited reduced fertility, as deletion of Emc10 affected interaction of spermatozoa with oocytes. Loss of Emc10 did not affect spermatogenesis or influence development of testis and epididymis, but it impaired sperm function, as Emc10 was involved sperm maturation in the epididymis and maintenance of normal sperm morphology during transit through the epididymis. Mechanistically, Emc10 deletion dramatically altered the proteomic expression profile in spermatozoa. In particular, loss of Emc10 resulted in inactivation of Na/K-ATPase (see <a href="/entry/182310">182310</a>), leading to ion imbalance in spermatozoa. Analysis of semen from asthenozoospermic patients revealed that EMC10 was involved in regulation of human sperm motility, and that low sperm EMC10 was a causative factor for human male infertility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29659949" 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><a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al. (2021)</a> noted that Emc10-null mice exhibit neurologic and behavioral abnormalities, including abnormal vocalization, gait, activity, and anxiety-related mannerisms as well as defects in cognitive processes, such as memory and learning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33531666" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614545[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">rs2122664852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2122664852;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=rs2122664852" 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=rs2122664852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs, born of consanguineous Arab parents, with neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS; <a href="/entry/619264">619264</a>), <a href="#5" class="mim-tip-reference" title="Umair, M., Ballow, M., Asiri, A., Alyafee, Y., Al Tuwaijri, A., Alhamoudi, KM., Aloraini, T., Abdelhakim, M., Althagafi, A. T., Kafkas, S., Alsubaie, L., Alrifai, M. T., Hoehndorf, R., Alfares, A., Alfadhel, M. <strong>EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.</strong> Clin. Genet. 98: 555-561, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32869858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32869858</a>] [<a href="https://doi.org/10.1111/cge.13842" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32869858">Umair et al. (2020)</a> identified a homozygous G-to-A transition in intron 6 of the EMC10 gene (c.679-1G-A, NM_206538.4), predicted to result in a splice site alteration. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. RT-PCR analysis of patient cells showed decreased EMC10 mRNA levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32869858" 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"><span class="text-primary">●</span> rs770255014 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770255014;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/rs770255014?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=rs770255014" 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=rs770255014" 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=RCV001270149 OR RCV001374394" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001270149, RCV001374394" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001270149...</a>
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<p>In 12 patients from 7 unrelated consanguineous families of Middle Eastern descent with neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS; <a href="/entry/619264">619264</a>), <a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al. (2021)</a> identified a homozygous 1-bp deletion (c.287delG, NM_206538.3) in the EMA10 gene, predicted to result in a frameshift and premature termination (Gly96AlafsTer9). The mutation, which was found by whole-exome or whole-genome sequencing at various centers, was confirmed by Sanger sequencing and segregated with the disorder in the families. It was not present in the homozygous state in public databases. Haplotype analysis identified 2 distinct haplotypes among the families, suggesting that the mutation occurred in a hotspot; the deletion was within a homopolymeric repeat sequence that predisposes to DNA replication errors. Studies of cells derived from some patients showed reduced but not absent EMC10 expression, suggesting that the mutation results in an unstable protein. The mutations resulted in a putative truncated protein of 103 amino acids in length and was predicted to abolish the C-terminal region that interacts with core EMC proteins. In vitro functional expression studies in HeLa cells transfected with the mutation showed that the mutant protein was unstable due to proteasomal degradation. <a href="#4" class="mim-tip-reference" title="Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others. <strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong> Genet. Med. 23: 1158-1162, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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/10.1038/s41436-021-01097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33531666">Shao et al. (2021)</a> concluded that the mutation resulted in a loss of EMC10 function, which may have detrimental effects on transmembrane protein dynamics in various cell types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33531666" 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 Bedouin girl (patient S8) born to consanguineous parents, <a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygosity for the c.287delG mutation in the EMC10 gene. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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 an Azerbaijani boy (patient S1), born to consanguineous parents, <a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygosity for a 1-bp duplication (c.543dup, NM_206538.4) in the EMC10 gene, resulting in a frameshift and premature termination (Asn182GlnfsTer16). The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
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EMC10, 1-BP DEL, 66C
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002281591" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002281591" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002281591</a>
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<p>In Bukharan Jewish brothers (patients S2 and S3), born to consanguineous parents, <a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygosity for a 1-bp deletion (c.66delC, NM_206538.4) in the EMC10 gene, resulting in a frameshift and premature termination (Ser23ValfsTer82). The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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>.0005 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
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EMC10, GLN87TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002281592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002281592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002281592</a>
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<span class="mim-text-font">
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<p>In 3 Egyptian sisters (patients S4-S6), born to consanguineous parents, <a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygosity for a c.259C-T transition (c.259C-T, NM_206538.4) in the EMC10 gene, resulting in a gln87-to-ter (Q87X) substitution. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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 id="0006" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0006 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
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EMC10, ARG97TER
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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> rs765552403 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs765552403;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/rs765552403?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=rs765552403" 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=rs765552403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001781034 OR RCV004728814 OR RCV004980688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001781034, RCV004728814, RCV004980688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001781034...</a>
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</span>
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<span class="mim-text-font">
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<p>In a Persian girl (patient S7), born to consanguineous parents, <a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygosity for a c.289C-T transition (c.289C-T, NM_206538.4) in the EMC10 gene, resulting in an arg97-to-ter (R97X) substitution. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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 id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
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</span>
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EMC10, IVS2, A-C, -2
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002281593" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002281593" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002281593</a>
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</span>
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<span class="mim-text-font">
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<p>In Egyptian sisters (patient S9 and S10), born to consanguineous parents, <a href="#3" class="mim-tip-reference" title="Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others. <strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong> Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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/10.1002/acn3.51602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35684946">Kaiyrzhanov et al. (2022)</a> identified homozygosity for a c.188-2A-C transversion (c.188-2A-C, NM_206538.4) in intron 2 of the EMC10 gene, resulting in a splicing abnormality. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35684946" 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 id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Diamantopoulou2017" class="mim-anchor"></a>
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<div class="">
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Diamantopoulou, A., Sun, Z., Mukai, J., Xu, B., Fenelon, K., Karayiorgou, M., Gogos, J. A.
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<strong>Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.</strong>
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Proc. Nat. Acad. Sci. 114: E6127-E6136, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28696314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28696314</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28696314[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=28696314" 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/10.1073/pnas.1615719114" target="_blank">Full Text</a>]
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<a id="Junes-Gill2011" class="mim-anchor"></a>
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Junes-Gill, K. S., Gallaher, T. K., Gluzman-Poltorak, Z., Miller, J. D., Wheeler, C. J., Fan, X., Basile, L. A.
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<strong>hHSS1: a novel secreted factor suppressor of glioma growth located at chromosome 19q13.33.</strong>
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J. Neurooncol. 102: 197-211, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20680400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20680400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20680400[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=20680400" 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/10.1007/s11060-010-0314-6" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Kaiyrzhanov2022" class="mim-anchor"></a>
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Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others.
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<strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong>
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Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35684946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35684946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35684946[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=35684946" 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/acn3.51602" target="_blank">Full Text</a>]
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<a id="Shao2021" class="mim-anchor"></a>
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Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others.
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<strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong>
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Genet. Med. 23: 1158-1162, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33531666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33531666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33531666[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=33531666" 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/10.1038/s41436-021-01097-x" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Umair2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Umair, M., Ballow, M., Asiri, A., Alyafee, Y., Al Tuwaijri, A., Alhamoudi, KM., Aloraini, T., Abdelhakim, M., Althagafi, A. T., Kafkas, S., Alsubaie, L., Alrifai, M. T., Hoehndorf, R., Alfares, A., Alfadhel, M.
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<strong>EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.</strong>
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Clin. Genet. 98: 555-561, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32869858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32869858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32869858" 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.13842" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Zhou2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, Y., Wu, F., Zhang, M., Xiong, Z., Yin, Q., Ru, Y., Shi, H., Li, J., Mao, S., Li, Y., Cao, X., Hu, R., Liew, C. W., Ding, Q., Wang, X., Zhang, Y.
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<strong>EMC10 governs male fertility via maintaining sperm ion balance.</strong>
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J. Molec. Cell Biol. 10: 503-514, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29659949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29659949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29659949[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=29659949" 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/10.1093/jmcb/mjy024" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="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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Hilary J. Vernon - updated : 09/06/2022
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Bao Lige - updated : 08/29/2022<br>Cassandra L. Kniffin - updated : 04/07/2021
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="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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Patricia A. Hartz : 3/20/2012
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="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 : 09/06/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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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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mgross : 08/30/2022<br>mgross : 08/29/2022<br>alopez : 08/12/2021<br>alopez : 04/13/2021<br>ckniffin : 04/07/2021<br>mgross : 03/04/2016<br>carol : 2/26/2015<br>mgross : 3/20/2012
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<span class="mim-font">
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<strong>*</strong> 614545
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<h3>
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<span class="mim-font">
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ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 10; EMC10
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 10<br />
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CHROMOSOME 19 OPEN READING FRAME 63; C19ORF63
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<span class="mim-font">
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Other entities represented in this entry:
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<div>
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<span class="h3 mim-font">
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HEMATOPOIETIC SIGNAL PEPTIDE-CONTAINING SECRETED PROTEIN 1, INCLUDED; HSS1, INCLUDED
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<span class="h4 mim-font">
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HEMATOPOIETIC SIGNAL PEPTIDE- AND MEMBRANE DOMAIN-CONTAINING PROTEIN 1, INCLUDED; HSM1, INCLUDED
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EMC10</em></strong>
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</span>
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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: 19q13.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:50,476,507-50,490,871 </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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<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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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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19q13.33
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<td>
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<span class="mim-font">
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Neurodevelopmental disorder with dysmorphic facies and variable seizures
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<td>
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<span class="mim-font">
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619264
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<td>
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<span class="mim-font">
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Autosomal recessive
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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 class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>The EMC10 gene encodes one of 10 components of the endoplasmic reticulum complex (EMC), which is a highly conserved protein complex related to membrane protein biology (summary by Shao et al., 2021). </p>
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</span>
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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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<span class="mim-text-font">
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<p>Using microarray analysis to identify genes differentially expressed in mouse hematopoietic stem cells, followed by database analysis and PCR of mouse and human cDNA libraries, Junes-Gill et al. (2011) cloned 2 splice variants of mouse and human C19ORF63, which they called HSM1 and HSS1. The deduced 262- and 254-amino acid human HSM1 and HSS1 proteins are identical for the first 227 amino acids, including an N-terminal signal sequence, an N-glycosylation site, and an O-glycosylation site. HSM1, but not HSS1, has a transmembrane domain near its C terminus. The mouse and human HSS1 proteins share about 86% identity. Qualitative PCR detected HSS1 expression in several brain regions, with highest expression in pituitary. Western blot analysis detected secretion of HSS1 from transfected 293T cells. HSS1 had an apparent molecular mass of 30 kD, larger than the predicted molecular mass of 24.2 kD for mature HSS1. Nuclear staining was also observed in transfected U87 human glioblastoma cells. Database analysis revealed orthologs of C19ORF63 in mammals, invertebrates, and plants. </p><p>Shao et al. (2021) found expression of EMC10 in human infant brain. EMC10 colocalized with MAP2 (157130), a nonnuclear protein expressed in mature neurons. NeuN (616999), a nuclear marker of mature neurons, also showed colocalization with EMC10. </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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<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>The A172 and U87 human glioblastoma cell lines have deletions in a region of chromosome 9 corresponding to the C19ORF63 locus. Using RT-PCR, Junes-Gill et al. (2011) confirmed that neither cell line expressed HSS1 or HSM1. Transfection of HSS1 partly restored contact inhibition and reduced aggregation of U87 cells. It also suppressed the malignant phenotype of U87 cells in vitro and following injection into immunocompromised mice. Similarly, expression of HSS1 reduced the rate of growth and colony formation in A172 cells. HSS1 expression in U87 cells altered the gene expression profile. Apelin (300297) was one of the most downregulated genes, and ADAMTS1 (605174) and SIK1 (SNF1LK; 605705) were among the upregulated genes. </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 Structure</strong>
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</span>
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<span class="mim-text-font">
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<p>Junes-Gill et al. (2011) determined that the C19ORF63 gene contains 8 exons and spans at least 6.8 kb. Exon 7, which is alternatively spliced, and exon 8 contain stop codons. </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 genomic sequence analysis, Junes-Gill et al. (2011) mapped the C19ORF63 gene to chromosome 19q13.33. They mapped the mouse ortholog to chromosome 7. </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 2 sibs, born of consanguineous Arab parents, with neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS; 619264), Umair et al. (2020) identified a homozygous splice site mutation in the EMC10 gene (614545.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. RT-PCR analysis of patient cells showed decreased EMC10 mRNA levels compared to controls. </p><p>In 12 patients from 7 unrelated consanguineous families of Middle Eastern descent with NEDDFAS, Shao et al. (2021) identified a homozygous frameshift mutation in the EMA10 gene (614545.0002). The mutation, which was found by whole-exome or whole-genome sequencing at various centers, was confirmed by Sanger sequencing and segregated with the disorder in the families. It was not present in the homozygous state in public databases. Studies of cells derived from some patients and in vitro studies showed that the mutant protein was unstable due to proteasomal degradation. Shao et al. (2021) concluded that the mutation resulted in a loss of EMC10 function, which may have detrimental effects on transmembrane protein dynamics in various cell types. </p><p>Kaiyrzhanov et al. (2022) identified homozygous mutations in the EMC10 gene in 10 patients from 6 unrelated consanguineous families. Five of the mutations were novel (614545.0003-614545.0007) and one was previously identified (614545.0002). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. The mutations were either absent or present at a rare allelic frequency in multiple public and private variant databases. </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>Animal Model</strong>
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</span>
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<span class="mim-text-font">
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<p>Mice carrying a hemizygous 1.3-Mb chromosomal deficiency on chromosome 16 (Df(16)A +/- mice; see 609030), which is syntenic to the human 1.5-Mb 22q11.2 microdeletion associated with risk of schizophrenia (SCZD; 181500), have primary cognitive and behavioral deficits related to SCZD due to abnormal processing and levels of brain microRNAs, particularly Mir185 (615576). Diamantopoulou et al. (2017) demonstrated that upregulated levels of Emc10, a target of Mir185, in postnatal brain was a significant contributor to the SCZD phenotype in Df(16)A +/- mice. Genetic normalization of Emc10 levels in Df(16)A +/- mice prevented key SCZ-related deficits in prepulse inhibition, working memory-dependent learning, and social memory, but it failed to rescue hyperactivity and fear memory deficits. Furthermore, Emc10 knockout and overexpression had dissociable effects on cognition and behavior of mice. Mechanistically, reduction of Emc10 levels in Df(16)A +/- mice rescued synaptic plasticity deficits in the prefrontal cortex (PFC) and prevented structural alterations in the PFC. </p><p>Zhou et al. (2018) found that Emc10 -/- mice had normal survival rate, appearance, and gross behavior compared with wildtype. However, Emc10 -/- males were completely infertile, and females exhibited reduced fertility, as deletion of Emc10 affected interaction of spermatozoa with oocytes. Loss of Emc10 did not affect spermatogenesis or influence development of testis and epididymis, but it impaired sperm function, as Emc10 was involved sperm maturation in the epididymis and maintenance of normal sperm morphology during transit through the epididymis. Mechanistically, Emc10 deletion dramatically altered the proteomic expression profile in spermatozoa. In particular, loss of Emc10 resulted in inactivation of Na/K-ATPase (see 182310), leading to ion imbalance in spermatozoa. Analysis of semen from asthenozoospermic patients revealed that EMC10 was involved in regulation of human sperm motility, and that low sperm EMC10 was a causative factor for human male infertility. </p><p>Shao et al. (2021) noted that Emc10-null mice exhibit neurologic and behavioral abnormalities, including abnormal vocalization, gait, activity, and anxiety-related mannerisms as well as defects in cognitive processes, such as memory and learning. </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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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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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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<strong>.0001 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
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</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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EMC10, IVS6AS, G-A, -1
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<br />
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SNP: rs2122664852,
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ClinVar: RCV001374393
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs, born of consanguineous Arab parents, with neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS; 619264), Umair et al. (2020) identified a homozygous G-to-A transition in intron 6 of the EMC10 gene (c.679-1G-A, NM_206538.4), predicted to result in a splice site alteration. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. RT-PCR analysis of patient cells showed decreased EMC10 mRNA levels compared to controls. </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">
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<strong>.0002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
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</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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EMC10, 1-BP DEL, 287G
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<br />
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SNP: rs770255014,
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gnomAD: rs770255014,
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ClinVar: RCV001270149, RCV001374394
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 12 patients from 7 unrelated consanguineous families of Middle Eastern descent with neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS; 619264), Shao et al. (2021) identified a homozygous 1-bp deletion (c.287delG, NM_206538.3) in the EMA10 gene, predicted to result in a frameshift and premature termination (Gly96AlafsTer9). The mutation, which was found by whole-exome or whole-genome sequencing at various centers, was confirmed by Sanger sequencing and segregated with the disorder in the families. It was not present in the homozygous state in public databases. Haplotype analysis identified 2 distinct haplotypes among the families, suggesting that the mutation occurred in a hotspot; the deletion was within a homopolymeric repeat sequence that predisposes to DNA replication errors. Studies of cells derived from some patients showed reduced but not absent EMC10 expression, suggesting that the mutation results in an unstable protein. The mutations resulted in a putative truncated protein of 103 amino acids in length and was predicted to abolish the C-terminal region that interacts with core EMC proteins. In vitro functional expression studies in HeLa cells transfected with the mutation showed that the mutant protein was unstable due to proteasomal degradation. Shao et al. (2021) concluded that the mutation resulted in a loss of EMC10 function, which may have detrimental effects on transmembrane protein dynamics in various cell types. </p><p>In a Bedouin girl (patient S8) born to consanguineous parents, Kaiyrzhanov et al. (2022) identified homozygosity for the c.287delG mutation in the EMC10 gene. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </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">
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<strong>.0003 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
|
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</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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EMC10, 1-BP DUP, 543C
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<br />
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ClinVar: RCV002281590
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Azerbaijani boy (patient S1), born to consanguineous parents, Kaiyrzhanov et al. (2022) identified homozygosity for a 1-bp duplication (c.543dup, NM_206538.4) in the EMC10 gene, resulting in a frameshift and premature termination (Asn182GlnfsTer16). The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </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">
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<strong>.0004 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
|
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</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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EMC10, 1-BP DEL, 66C
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<br />
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ClinVar: RCV002281591
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In Bukharan Jewish brothers (patients S2 and S3), born to consanguineous parents, Kaiyrzhanov et al. (2022) identified homozygosity for a 1-bp deletion (c.66delC, NM_206538.4) in the EMC10 gene, resulting in a frameshift and premature termination (Ser23ValfsTer82). The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </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">
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<strong>.0005 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
|
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</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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EMC10, GLN87TER
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<br />
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ClinVar: RCV002281592
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 Egyptian sisters (patients S4-S6), born to consanguineous parents, Kaiyrzhanov et al. (2022) identified homozygosity for a c.259C-T transition (c.259C-T, NM_206538.4) in the EMC10 gene, resulting in a gln87-to-ter (Q87X) substitution. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </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>.0006 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</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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EMC10, ARG97TER
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<br />
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SNP: rs765552403,
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gnomAD: rs765552403,
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ClinVar: RCV001781034, RCV004728814, RCV004980688
|
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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 Persian girl (patient S7), born to consanguineous parents, Kaiyrzhanov et al. (2022) identified homozygosity for a c.289C-T transition (c.289C-T, NM_206538.4) in the EMC10 gene, resulting in an arg97-to-ter (R97X) substitution. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </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>
|
|
<span class="mim-font">
|
|
<strong>.0007 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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EMC10, IVS2, A-C, -2
|
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<br />
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ClinVar: RCV002281593
|
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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 Egyptian sisters (patient S9 and S10), born to consanguineous parents, Kaiyrzhanov et al. (2022) identified homozygosity for a c.188-2A-C transversion (c.188-2A-C, NM_206538.4) in intron 2 of the EMC10 gene, resulting in a splicing abnormality. The mutation, which was identified by whole-exome sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Diamantopoulou, A., Sun, Z., Mukai, J., Xu, B., Fenelon, K., Karayiorgou, M., Gogos, J. A.
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<strong>Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.</strong>
|
|
Proc. Nat. Acad. Sci. 114: E6127-E6136, 2017.
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[PubMed: 28696314]
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[Full Text: https://doi.org/10.1073/pnas.1615719114]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Junes-Gill, K. S., Gallaher, T. K., Gluzman-Poltorak, Z., Miller, J. D., Wheeler, C. J., Fan, X., Basile, L. A.
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<strong>hHSS1: a novel secreted factor suppressor of glioma growth located at chromosome 19q13.33.</strong>
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J. Neurooncol. 102: 197-211, 2011.
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[PubMed: 20680400]
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[Full Text: https://doi.org/10.1007/s11060-010-0314-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kaiyrzhanov, R., Rocca, C., Suri, M., Gulieva, S., Zaki, M. S., Henig, N. Z., Siquier, K., Guliyeva, U., Mounir, S. M., Marom, D., Allahverdiyeva, A., Megahed, H., and 13 others.
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<strong>Biallelic loss of EMC10 leads to mild to severe intellectual disability.</strong>
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Ann. Clin. Transl. Neurol. 9: 1080-1089, 2022.
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[PubMed: 35684946]
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[Full Text: https://doi.org/10.1002/acn3.51602]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., and 21 others.
|
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<strong>A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.</strong>
|
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Genet. Med. 23: 1158-1162, 2021.
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[PubMed: 33531666]
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[Full Text: https://doi.org/10.1038/s41436-021-01097-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Umair, M., Ballow, M., Asiri, A., Alyafee, Y., Al Tuwaijri, A., Alhamoudi, KM., Aloraini, T., Abdelhakim, M., Althagafi, A. T., Kafkas, S., Alsubaie, L., Alrifai, M. T., Hoehndorf, R., Alfares, A., Alfadhel, M.
|
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<strong>EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.</strong>
|
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Clin. Genet. 98: 555-561, 2020.
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[PubMed: 32869858]
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[Full Text: https://doi.org/10.1111/cge.13842]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhou, Y., Wu, F., Zhang, M., Xiong, Z., Yin, Q., Ru, Y., Shi, H., Li, J., Mao, S., Li, Y., Cao, X., Hu, R., Liew, C. W., Ding, Q., Wang, X., Zhang, Y.
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<strong>EMC10 governs male fertility via maintaining sperm ion balance.</strong>
|
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J. Molec. Cell Biol. 10: 503-514, 2018.
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[PubMed: 29659949]
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[Full Text: https://doi.org/10.1093/jmcb/mjy024]
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</p>
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</li>
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</ol>
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<div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="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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Hilary J. Vernon - updated : 09/06/2022<br>Bao Lige - updated : 08/29/2022<br>Cassandra L. Kniffin - updated : 04/07/2021
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</span>
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</div>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="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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Patricia A. Hartz : 3/20/2012
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Edit History:
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</span>
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<div class="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 : 09/06/2022<br>mgross : 08/30/2022<br>mgross : 08/29/2022<br>alopez : 08/12/2021<br>alopez : 04/13/2021<br>ckniffin : 04/07/2021<br>mgross : 03/04/2016<br>carol : 2/26/2015<br>mgross : 3/20/2012
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