2781 lines
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Entry
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- *603658 - RIBOSOMAL PROTEIN S7; RPS7
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603658</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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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603658">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000171863;t=ENST00000645674" 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=6201" 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=603658" 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=ENSG00000171863;t=ENST00000645674" 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_001011" 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_001011" 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=603658" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04712&isoform_id=04712_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/RPS7" 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/337518,551251,4506741,12804027,38303973,48734988,49065831,62088352,62420310,119621461,119621462,119621463,119621464,189053115" 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/P62081" 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=6201" 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=ENSG00000171863;t=ENST00000645674" 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=RPS7" 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=RPS7" 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+6201" 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/RPS7" 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:6201" 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/6201" 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=chr2&hgg_gene=ENST00000645674.2&hgg_start=3575260&hgg_end=3580920&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 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=603658[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 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=603658[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://gnomad.broadinstitute.org/gene/ENSG00000171863" 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=RPS7" 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=RPS7" 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=RPS7" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.dbagenes.unito.it/home.php?select_db=RPS7" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RPS7&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/PA34855" 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:10440" 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/FBgn0039757.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:1333818" 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/RPS7#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:1333818" 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/6201/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=6201" 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=WBGene00004476;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-040426-1718" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6201" 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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<div><a href="https://reactome.org/content/query?q=RPS7&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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603658
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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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RIBOSOMAL PROTEIN S7; RPS7
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RPS7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPS7</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/2/20?start=-3&limit=10&highlight=20">2p25.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:3575260-3580920&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'})">2:3,575,260-3,580,920</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/20?start=-3&limit=10&highlight=20">
|
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2p25.3
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Diamond-Blackfan anemia 8
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612563"> 612563 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603658" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603658" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>The eukaryotic ribosome consists of more than 80 different ribosomal proteins, including RPS7, and 4 RNA species (see <a href="/entry/180450">180450</a>).</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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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p><a href="#1" class="mim-tip-reference" title="Annilo, T., Laan, M., Stahl, J., Metspalu, A. <strong>The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25.</strong> Gene 165: 297-302, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8522193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8522193</a>]" pmid="8522193">Annilo et al. (1995)</a> isolated cDNAs encoding RPS7 by screening a human cDNA expression library with antibodies against rat Rps7. The deduced 194-amino acid human RPS7 protein is identical to rat Rps7. Northern blot analysis detected an approximately 0.7-kb RPS7 transcript in HeLa cells. The authors identified several RPS7 pseudogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8522193" 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="#1" class="mim-tip-reference" title="Annilo, T., Laan, M., Stahl, J., Metspalu, A. <strong>The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25.</strong> Gene 165: 297-302, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8522193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8522193</a>]" pmid="8522193">Annilo et al. (1995)</a> determined that the RPS7 gene contains 7 exons and spans over 6 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8522193" 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 FISH, <a href="#1" class="mim-tip-reference" title="Annilo, T., Laan, M., Stahl, J., Metspalu, A. <strong>The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25.</strong> Gene 165: 297-302, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8522193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8522193</a>]" pmid="8522193">Annilo et al. (1995)</a> mapped the RPS7 gene to chromosome 2p25. <a href="#5" class="mim-tip-reference" title="Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. <strong>A map of 75 human ribosomal protein genes.</strong> Genome Res. 8: 509-523, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>] [<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582194">Kenmochi et al. (1998)</a> confirmed the mapping assignment reported by <a href="#1" class="mim-tip-reference" title="Annilo, T., Laan, M., Stahl, J., Metspalu, A. <strong>The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25.</strong> Gene 165: 297-302, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8522193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8522193</a>]" pmid="8522193">Annilo et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8522193+9582194" 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 yeast 2-hybrid screening of a human testis cDNA library, <a href="#6" class="mim-tip-reference" title="Sato, Y., Yano, S., Ewis, A. A., Nakahori, Y. <strong>SRY interacts with ribosomal proteins S7 and L13a in nuclear speckles.</strong> Cell Biol. Int. 35: 449-452, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21114473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21114473</a>] [<a href="https://doi.org/10.1042/CBI20090201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21114473">Sato et al. (2011)</a> identified RPS7 and RPL13A (<a href="/entry/619225">619225</a>) as SRY (<a href="/entry/480000">480000</a>)-interacting proteins. Pull-down assay confirmed that the HMG box of SRY was required for its interaction with RPS7 and RPL13A. In transiently transfected COS1 cells, SRY, RPS7, and RPL13A colocalized in nuclear speckles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21114473" 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="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> screened 196 probands with Diamond-Blackfan anemia (see DBA8, <a href="/entry/612563">612563</a>) for mutations in 25 genes encoding ribosomal proteins and identified a splice site mutation in the RPS7 gene in 1 proband (<a href="#0001">603658.0001</a>). The mutation was not found in his unaffected sister or at least 150 controls, and functional studies strongly suggested that mutation in RPS7 is associated with defects in the maturation of ribosomal RNAs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> screened a cohort of 19 patients with DBA for mutations in 80 ribosomal protein genes and identified a heterozygous splice site mutation in the RPS7 gene (<a href="#0001">603658.0001</a>) in 1 patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in a Japanese mother and daughter with DBA, <a href="#4" class="mim-tip-reference" title="Ichimura, T., Yoshida, K., Okuno, Y., Yujiri, T., Nagai, K., Nishi, M., Shiraishi, Y., Ueno, H., Toki, T., Chiba, K., Tanaka, H., Muramatsu, H., Hara, T., Kanno, H., Kojima, S., Miyano, S., Ito, E., Ogawa, S., Ohga, S. <strong>Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.</strong> Int. J. Hemat. 105: 515-520, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27882484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27882484</a>] [<a href="https://doi.org/10.1007/s12185-016-2151-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27882484">Ichimura et al. (2017)</a> identified heterozygosity for a splice site mutation in the RPS7 gene (<a href="#0002">603658.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27882484" 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="#7" class="mim-tip-reference" title="Watkins-Chow, D. E., Cooke, J., Pidsley, R., Edwards, A., Slotkin, R., Leeds, K. E., Mullen, R., Baxter, L. L., Campbell, T. G., Salzer, M. C., Biondini, L., Gibney, G., and 10 others. <strong>Mutation of the Diamond-Blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.</strong> PLoS Genet. 9: e1003094, 2013. Note: Electronic Article. Erratum: PLoS Genet. 11: e1005682, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23382688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23382688</a>] [<a href="https://doi.org/10.1371/journal.pgen.1003094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23382688">Watkins-Chow et al. (2013)</a> described 2 N-ethyl-N-nitrosourea (ENU)-induced mouse mutants of Rps7: montu (Mtu), which results in a val156-to-gly (V156G) substitution at a highly conserved residue, and zuma (Zma), which results in a tyr177-to-ser (Y177S) substitution at a conserved residue. Mtu was dominant lethal with incomplete penetrance, whereas survival in Zma heterozygotes depended on the genetic background. Both mutations impaired ribosomal biogenesis and caused reduced body size accompanied by abnormal skeletal, melanocyte, eye, and central nervous system development, as well as deficits in working memory. Neither mutation caused anemia or hyperpigmentation. Loss of Rps7 increased expression of Trp53 (TP53; <a href="/entry/191170">191170</a>), and crossing the Zma mutation onto a Trp53 +/- background largely suppressed the Zma phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23382688" 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">rs116840810 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs116840810;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=rs116840810" 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=rs116840810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397507554 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397507554;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=rs397507554" 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=rs397507554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a male patient with Diamond-Blackfan anemia (DBA8; <a href="/entry/612563">612563</a>) who had no associated malformations, <a href="#2" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a G-A transition at the donor splice site in intron 3 (IVS3+1G-A) of the RPS7 gene. The mutation was not found in his unaffected sister or in at least 150 controls. Lymphoblastoid cells established from the patient's cells displayed higher levels of 45S and 30S pre-rRNAs compared to cells derived from an unaffected sibling; siRNA knockdown of RPS7 synthesis in HeLa cells resulted in a strong defect in 5-prime ETS processing, with accumulation of 45S and 30S pre-rRNAs and a marked decrease in the 41S, 21S, and 18S-E intermediates, whereas levels of precursors to the large ribosomal subunit RNAs were unchanged. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> identified a c.147+1G-T mutation in intron 3 of the RPS7 gene in 1 of 19 patients with DBA who were screened for mutations in 80 ribosomal protein genes. <a href="#3" class="mim-tip-reference" title="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> stated that this was the same splice site mutation previously reported as a G-to-A change by <a href="#2" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a>. The patient (S12) was a 10-year-old Caucasian girl who was diagnosed at age 2 months. She had growth retardation, Cathie facies, and neutropenia. She underwent bone marrow transplantation from an unaffected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23718193+19061985" 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>.0002 DIAMOND-BLACKFAN ANEMIA 8</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1057519624 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519624;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=rs1057519624" 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=rs1057519624" 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=RCV000412538" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000412538" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000412538</a>
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<p>In a Japanese mother and daughter with Diamond-Blackfan anemia (DBA8; <a href="/entry/612563">612563</a>), <a href="#4" class="mim-tip-reference" title="Ichimura, T., Yoshida, K., Okuno, Y., Yujiri, T., Nagai, K., Nishi, M., Shiraishi, Y., Ueno, H., Toki, T., Chiba, K., Tanaka, H., Muramatsu, H., Hara, T., Kanno, H., Kojima, S., Miyano, S., Ito, E., Ogawa, S., Ohga, S. <strong>Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.</strong> Int. J. Hemat. 105: 515-520, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27882484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27882484</a>] [<a href="https://doi.org/10.1007/s12185-016-2151-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27882484">Ichimura et al. (2017)</a> identified heterozygosity for a splicing error (exon 3, c.76-1G-T) in the RPS7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27882484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Annilo, T., Laan, M., Stahl, J., Metspalu, A.
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<strong>The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25.</strong>
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Gene 165: 297-302, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8522193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8522193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8522193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.
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<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
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Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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=19061985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.11.004" target="_blank">Full Text</a>]
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Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A.
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
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Brit. J. Haemat. 162: 530-536, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" 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/bjh.12397" target="_blank">Full Text</a>]
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Ichimura, T., Yoshida, K., Okuno, Y., Yujiri, T., Nagai, K., Nishi, M., Shiraishi, Y., Ueno, H., Toki, T., Chiba, K., Tanaka, H., Muramatsu, H., Hara, T., Kanno, H., Kojima, S., Miyano, S., Ito, E., Ogawa, S., Ohga, S.
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<strong>Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.</strong>
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Int. J. Hemat. 105: 515-520, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27882484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27882484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27882484" 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/s12185-016-2151-7" target="_blank">Full Text</a>]
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" 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/10.1101/gr.8.5.509" target="_blank">Full Text</a>]
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Sato, Y., Yano, S., Ewis, A. A., Nakahori, Y.
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<strong>SRY interacts with ribosomal proteins S7 and L13a in nuclear speckles.</strong>
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Cell Biol. Int. 35: 449-452, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21114473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21114473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21114473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Watkins-Chow, D. E., Cooke, J., Pidsley, R., Edwards, A., Slotkin, R., Leeds, K. E., Mullen, R., Baxter, L. L., Campbell, T. G., Salzer, M. C., Biondini, L., Gibney, G., and 10 others.
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<strong>Mutation of the Diamond-Blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.</strong>
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PLoS Genet. 9: e1003094, 2013. Note: Electronic Article. Erratum: PLoS Genet. 11: e1005682, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23382688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23382688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23382688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bao Lige - updated : 03/08/2021
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Marla J. F. O'Neill - updated : 12/15/2016<br>Patricia A. Hartz - updated : 7/13/2015<br>Cassandra L. Kniffin - updated : 2/19/2014<br>Marla J. F. O'Neill - updated : 1/26/2009
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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mgross : 06/11/2021
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<span class="mim-text-font">
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mgross : 03/08/2021<br>alopez : 07/18/2017<br>carol : 12/15/2016<br>carol : 11/30/2016<br>alopez : 08/15/2016<br>alopez : 08/11/2016<br>mgross : 08/20/2015<br>mcolton : 7/13/2015<br>carol : 2/20/2014<br>carol : 2/20/2014<br>mcolton : 2/20/2014<br>ckniffin : 2/19/2014<br>wwang : 1/29/2009<br>terry : 1/26/2009<br>carol : 3/19/1999
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603658
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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RIBOSOMAL PROTEIN S7; RPS7
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</span>
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</h3>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RPS7</em></strong>
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</span>
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</p>
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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: 2p25.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:3,575,260-3,580,920 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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</thead>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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2p25.3
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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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Diamond-Blackfan anemia 8
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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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612563
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The eukaryotic ribosome consists of more than 80 different ribosomal proteins, including RPS7, and 4 RNA species (see 180450).</p>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Annilo et al. (1995) isolated cDNAs encoding RPS7 by screening a human cDNA expression library with antibodies against rat Rps7. The deduced 194-amino acid human RPS7 protein is identical to rat Rps7. Northern blot analysis detected an approximately 0.7-kb RPS7 transcript in HeLa cells. The authors identified several RPS7 pseudogenes. </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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Annilo et al. (1995) determined that the RPS7 gene contains 7 exons and spans over 6 kb. </p>
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</span>
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<div>
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<br />
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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 FISH, Annilo et al. (1995) mapped the RPS7 gene to chromosome 2p25. Kenmochi et al. (1998) confirmed the mapping assignment reported by Annilo et al. (1995). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>By yeast 2-hybrid screening of a human testis cDNA library, Sato et al. (2011) identified RPS7 and RPL13A (619225) as SRY (480000)-interacting proteins. Pull-down assay confirmed that the HMG box of SRY was required for its interaction with RPS7 and RPL13A. In transiently transfected COS1 cells, SRY, RPS7, and RPL13A colocalized in nuclear speckles. </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>Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia (see DBA8, 612563) for mutations in 25 genes encoding ribosomal proteins and identified a splice site mutation in the RPS7 gene in 1 proband (603658.0001). The mutation was not found in his unaffected sister or at least 150 controls, and functional studies strongly suggested that mutation in RPS7 is associated with defects in the maturation of ribosomal RNAs. </p><p>Gerrard et al. (2013) screened a cohort of 19 patients with DBA for mutations in 80 ribosomal protein genes and identified a heterozygous splice site mutation in the RPS7 gene (603658.0001) in 1 patient. </p><p>By whole-exome sequencing in a Japanese mother and daughter with DBA, Ichimura et al. (2017) identified heterozygosity for a splice site mutation in the RPS7 gene (603658.0002). </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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Watkins-Chow et al. (2013) described 2 N-ethyl-N-nitrosourea (ENU)-induced mouse mutants of Rps7: montu (Mtu), which results in a val156-to-gly (V156G) substitution at a highly conserved residue, and zuma (Zma), which results in a tyr177-to-ser (Y177S) substitution at a conserved residue. Mtu was dominant lethal with incomplete penetrance, whereas survival in Zma heterozygotes depended on the genetic background. Both mutations impaired ribosomal biogenesis and caused reduced body size accompanied by abnormal skeletal, melanocyte, eye, and central nervous system development, as well as deficits in working memory. Neither mutation caused anemia or hyperpigmentation. Loss of Rps7 increased expression of Trp53 (TP53; 191170), and crossing the Zma mutation onto a Trp53 +/- background largely suppressed the Zma phenotype. </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>2 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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 DIAMOND-BLACKFAN ANEMIA 8</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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RPS7, IVS3DS, G-A, +1
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<br />
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SNP: rs116840810, rs397507554,
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ClinVar: RCV000006525
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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 a male patient with Diamond-Blackfan anemia (DBA8; 612563) who had no associated malformations, Gazda et al. (2008) identified heterozygosity for a G-A transition at the donor splice site in intron 3 (IVS3+1G-A) of the RPS7 gene. The mutation was not found in his unaffected sister or in at least 150 controls. Lymphoblastoid cells established from the patient's cells displayed higher levels of 45S and 30S pre-rRNAs compared to cells derived from an unaffected sibling; siRNA knockdown of RPS7 synthesis in HeLa cells resulted in a strong defect in 5-prime ETS processing, with accumulation of 45S and 30S pre-rRNAs and a marked decrease in the 41S, 21S, and 18S-E intermediates, whereas levels of precursors to the large ribosomal subunit RNAs were unchanged. </p><p>Gerrard et al. (2013) identified a c.147+1G-T mutation in intron 3 of the RPS7 gene in 1 of 19 patients with DBA who were screened for mutations in 80 ribosomal protein genes. Gerrard et al. (2013) stated that this was the same splice site mutation previously reported as a G-to-A change by Gazda et al. (2008). The patient (S12) was a 10-year-old Caucasian girl who was diagnosed at age 2 months. She had growth retardation, Cathie facies, and neutropenia. She underwent bone marrow transplantation from an unaffected sib. </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 DIAMOND-BLACKFAN ANEMIA 8</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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RPS7, c.76-1G-T
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<br />
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SNP: rs1057519624,
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ClinVar: RCV000412538
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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 a Japanese mother and daughter with Diamond-Blackfan anemia (DBA8; 612563), Ichimura et al. (2017) identified heterozygosity for a splicing error (exon 3, c.76-1G-T) in the RPS7 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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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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Annilo, T., Laan, M., Stahl, J., Metspalu, A.
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<strong>The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25.</strong>
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Gene 165: 297-302, 1995.
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[PubMed: 8522193]
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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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Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.
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<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
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Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: 19061985]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.11.004]
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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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Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A.
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
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Brit. J. Haemat. 162: 530-536, 2013.
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[PubMed: 23718193]
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[Full Text: https://doi.org/10.1111/bjh.12397]
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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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Ichimura, T., Yoshida, K., Okuno, Y., Yujiri, T., Nagai, K., Nishi, M., Shiraishi, Y., Ueno, H., Toki, T., Chiba, K., Tanaka, H., Muramatsu, H., Hara, T., Kanno, H., Kojima, S., Miyano, S., Ito, E., Ogawa, S., Ohga, S.
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<strong>Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.</strong>
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Int. J. Hemat. 105: 515-520, 2017.
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[PubMed: 27882484]
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[Full Text: https://doi.org/10.1007/s12185-016-2151-7]
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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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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: 9582194]
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[Full Text: https://doi.org/10.1101/gr.8.5.509]
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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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Sato, Y., Yano, S., Ewis, A. A., Nakahori, Y.
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<strong>SRY interacts with ribosomal proteins S7 and L13a in nuclear speckles.</strong>
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Cell Biol. Int. 35: 449-452, 2011.
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[PubMed: 21114473]
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[Full Text: https://doi.org/10.1042/CBI20090201]
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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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Watkins-Chow, D. E., Cooke, J., Pidsley, R., Edwards, A., Slotkin, R., Leeds, K. E., Mullen, R., Baxter, L. L., Campbell, T. G., Salzer, M. C., Biondini, L., Gibney, G., and 10 others.
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<strong>Mutation of the Diamond-Blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.</strong>
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PLoS Genet. 9: e1003094, 2013. Note: Electronic Article. Erratum: PLoS Genet. 11: e1005682, 2015.
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[PubMed: 23382688]
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[Full Text: https://doi.org/10.1371/journal.pgen.1003094]
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</p>
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</li>
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</ol>
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<div>
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Bao Lige - updated : 03/08/2021<br>Marla J. F. O'Neill - updated : 12/15/2016<br>Patricia A. Hartz - updated : 7/13/2015<br>Cassandra L. Kniffin - updated : 2/19/2014<br>Marla J. F. O'Neill - updated : 1/26/2009
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Patti M. Sherman : 3/18/1999
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mgross : 06/11/2021<br>mgross : 03/08/2021<br>alopez : 07/18/2017<br>carol : 12/15/2016<br>carol : 11/30/2016<br>alopez : 08/15/2016<br>alopez : 08/11/2016<br>mgross : 08/20/2015<br>mcolton : 7/13/2015<br>carol : 2/20/2014<br>carol : 2/20/2014<br>mcolton : 2/20/2014<br>ckniffin : 2/19/2014<br>wwang : 1/29/2009<br>terry : 1/26/2009<br>carol : 3/19/1999
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