3308 lines
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Entry
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- *300515 - FANCB GENE; FANCB
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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">*300515</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300515">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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</ul>
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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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<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 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-heading mim-panel-heading" role="tab" id="mimGenome">
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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=ENSG00000181544;t=ENST00000650831" 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=2187" 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=300515" 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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<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=ENSG00000181544;t=ENST00000650831" 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_001018113,NM_001324162,NM_001410764,NM_152633,NR_136707,XM_017029356,XM_047441920,XM_047441921,XM_047441922,XM_047441923,XM_047441924,XR_001755672,XR_001755673,XR_001755674,XR_007068184" 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_001018113" 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=300515" 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=06557&isoform_id=06557_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/FANCB" 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/21749740,22749293,27696650,33392713,66528785,74751163,119619267,119619268,119619269,187951499,187952403,1022943217,1034673806,2217391375,2217391377,2217391380,2217391382,2217391384,2286439409,2462628702,2462628704,2462628706,2462628708,2462628710,2462628712" 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/Q8NB91" 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=2187" 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=ENSG00000181544;t=ENST00000650831" 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=FANCB" 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=FANCB" 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+2187" 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/FANCB" 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:2187" 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/2187" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000650831.1&hgg_start=14689524&hgg_end=14873069&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3583" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3583" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300515[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300515[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/FANCB/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000181544" 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=FANCB" 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=FANCB" 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=FANCB" 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.rockefeller.edu/fanconi/mutate/" 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=FANCB&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/PA27996" 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:3583" 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://www.mousephenotype.org/data/genes/MGI:2448558" 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/FANCB#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:2448558" 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/2187/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=2187" 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://zfin.org/ZDB-GENE-060510-1" 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:2187" 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=FANCB&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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300515
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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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FANCB GENE; FANCB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 95-KD; FAAP95<br />
|
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FAAP90<br />
|
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FLJ34064
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FANCB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FANCB</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/74?start=-3&limit=10&highlight=74">Xp22.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:14689524-14873069&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:14,689,524-14,873,069</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/74?start=-3&limit=10&highlight=74">
|
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Xp22.2
|
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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">
|
|
Fanconi anemia, complementation group B
|
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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/300514"> 300514 </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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|
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300515" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300515" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#6" class="mim-tip-reference" title="Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W. <strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong> Molec. Cell. Biol. 23: 3417-3426, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12724401[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/10.1128/MCB.23.10.3417-3426.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12724401">Meetei et al. (2003)</a> purified a Fanconi anemia core complex containing 5 known Fanconi anemia proteins and 4 unknown components called Fanconi anemia-associated polypeptides (FAAPs). By mass spectrometric analysis, <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> identified FAAP95 as FLJ34064. FAAP95 has sequence homologs in mouse and chicken, but not in Drosophila melanogaster or Caenorhabditis elegans. The C terminus of the protein contains a putative bipartite nuclear localization signal. FAAP95 was retained mostly in the cytosolic extract of a FANCA (<a href="/entry/607139">607139</a>)-deficient cell line but became localized to the nuclear extract upon complementation by wildtype FANCA, similar to FANCL (<a href="/entry/608111">608111</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15502827+12724401" 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="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> determined that the FAAP95 gene has 10 exons, with the translation start site in exon 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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 reciprocal immunoprecipitation with FAAP95 antibody, <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> demonstrated coprecipitation of several components of the Fanconi anemia core complex, including FANCL, FANCA, and FANCG (<a href="/entry/602956">602956</a>). FAAP95 coimmunoprecipitated much more FANCL than FANCA or FANCG, suggesting that the interaction between FAAP95 and FANCL may be direct. <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> demonstrated that depletion of FAAP95 reduced the amount of monoubiquitinated FANCD2 (<a href="/entry/227646">227646</a>), similar to depletion of other components of the Fanconi anemia core complex, indicating that FAAP95 protein is a functional component of this complex. Additionally, cells depleted of FAAP95 had less FANCL, suggesting that FAAP95 is required for the stability of FANCL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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>The FAAP95 gene is situated in a region of the X chromosome where approximately 60% of the genes escape inactivation and are expressed biallelically. Studies of the methylation status of the gene by <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> showed, however, that this is not the case for FAAP95. Results indicated that FAAP95 is subject to total inactivation by methylation and that inactivation seems to be skewed toward the mutated allele. Because X inactivation takes place early in embryogenesis, selection over many subsequent cell generations may lead to almost complete overgrowth by normal cells. The presence of the FAAP95 gene as a single active copy and essentiality for a functional Fanconi anemia-BRCA (see <a href="/entry/600185">600185</a>) pathway make FAAP95 a potentially vulnerable component of the cellular machinery that maintains genomic integrity. Although germline mutations in FAAP95 resulting in FANCB are exceedingly rare, somatic FAAP95 mutations might occur at the average spontaneous mutation rate. The occurrence of such Fanconi anemia-like cells may contribute to oncogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#7" class="mim-tip-reference" title="Shakeel, S., Rajendra, E., Alcon, P., O'Reilly, F., Chorev, D. S., Maslen, S., Degliesposti, G., Russo, C. J., He, S., Hill, C. H., Skehel, J. M., Scheres, S. H. W., Patel, K. J., Rappsilber, J., Robinson, C. V., Passmore, L. A. <strong>Structure of the Fanconi anaemia monoubiquitin ligase complex.</strong> Nature 575: 234-237, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31666700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31666700</a>] [<a href="https://doi.org/10.1038/s41586-019-1703-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31666700">Shakeel et al. (2019)</a> reconstituted an active, recombinant Fanconi anemia core complex, and used cryoelectron microscopy and mass spectrometry to determine its structure. The FA core complex comprises 2 central dimers of the FANCB and FA-associated protein of 100 kD (FAAP100; <a href="/entry/611301">611301</a>) subunits, flanked by 2 copies of the RING finger subunit FANCL. These 2 heterotrimers act as a scaffold to assemble the remaining 5 subunits, resulting in an extended asymmetric structure. Destabilization of the scaffold would disrupt the entire complex, resulting in a nonfunctional FA pathway. Thus, the structure provides a mechanistic basis for the low numbers of patients with mutations in FANCB, FANCL, and FAAP100. Despite a lack of sequence homology, FANCB and FAAP100 adopt similar structures. The 2 FANCL subunits are in different conformations at opposite ends of the complex, suggesting that each FANCL has a distinct role. <a href="#7" class="mim-tip-reference" title="Shakeel, S., Rajendra, E., Alcon, P., O'Reilly, F., Chorev, D. S., Maslen, S., Degliesposti, G., Russo, C. J., He, S., Hill, C. H., Skehel, J. M., Scheres, S. H. W., Patel, K. J., Rappsilber, J., Robinson, C. V., Passmore, L. A. <strong>Structure of the Fanconi anaemia monoubiquitin ligase complex.</strong> Nature 575: 234-237, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31666700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31666700</a>] [<a href="https://doi.org/10.1038/s41586-019-1703-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31666700">Shakeel et al. (2019)</a> suggested that this structural and functional asymmetry of dimeric RING finger domains may be a general feature of E3 ligases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31666700" 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="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> determined that the FAAP95 gene is localized on chromosome Xp22.31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 male individuals with Fanconi anemia (<a href="/entry/300514">300514</a>), <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> found different mutations in the FAAP95 gene (<a href="#0001">300515.0001</a>-<a href="#0004">300515.0004</a>). In 2 of the 4 families the mother was a carrier, and in 1 of these 2 a sister of the proband was also a carrier. The 3 female FANCB carriers studied were healthy and showed no Fanconi anemia-like symptoms, and their T cells responded normally to challenge with mitomycin C (MMC) without any sign of mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> suggested that evidence that the BRCA2 gene (<a href="/entry/600185">600185</a>) underlies complementation group B, as suggested by the work of <a href="#2" class="mim-tip-reference" title="Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., D'Andrea, A. D. <strong>Biallelic inactivation of BRCA2 in Fanconi anemia.</strong> Science 297: 606-609, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12065746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12065746</a>] [<a href="https://doi.org/10.1126/science.1073834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12065746">Howlett et al. (2002)</a>, was inconclusive. No complementation of a FANCB cell line by BRCA2 was reported, and no BRCA2 mutation was detected in another FANCB cell line; furthermore, cells with defective or depleted BRCA2 show normal monoubiquitination of FANCD2, unlike FANCB cells, which show defective FANCD2 monoubiquitination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15502827+12065746" 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="#1" class="mim-tip-reference" title="Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G. <strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong> J. Med. Genet. 43: 750-754, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[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/10.1136/jmg.2006.041673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16679491">Holden et al. (2006)</a> studied a family in which 2 male fetuses, related to each other as nephew and maternal uncle, had Fanconi anemia presenting as VACTERL with hydrocephalus (VACTERL-H). A fibroblast culture established from the proband fetus showed an increased number of chromosome breaks within the affected range observed in Fanconi anemia cells on breakage studies with diepoxybutane. X-inactivation studies in the mother and maternal grandmother of the proband fetus showed 100% skewing of X inactivation, a feature consistently found in females heterozygous for FANCB mutations. On screening of the 8 coding exons of FANCB, <a href="#1" class="mim-tip-reference" title="Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G. <strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong> J. Med. Genet. 43: 750-754, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[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/10.1136/jmg.2006.041673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16679491">Holden et al. (2006)</a> identified a G-to-A substitution in intron 7 which changed a highly conserved guanine residue at position +5 within the splice donor site (<a href="#0005">300515.0005</a>). Sequencing of the mutant cDNA fragment from the proband fetus showed that this causes skipping of exon 7. The resulting frameshift in the FANCB transcript resulted in a stop codon at position 446 of the open reading frame. Sequencing of both obligate carrier females, mother and maternal grandmother, confirmed that they were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16679491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> found that 4 of 10 probands with Fanconi anemia presenting with a VACTERL-H phenotype had mutations in the FANCB gene (see, e.g., <a href="#0006">300515.0006</a> and <a href="#0007">300515.0007</a>). All patients were male, and all unaffected mothers had skewed X inactivation in peripheral blood. Two of the affected pregnancies were terminated at 20 weeks' gestation, 1 proband died at age 15 weeks, and 1 died at age 2 years, 10 months. All patients had multiple severe congenital anomalies, but only the patient who lived beyond the neonatal period developed anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300515[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1601977844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1601977844;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=rs1601977844" 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=rs1601977844" 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=RCV000851564" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000851564" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000851564</a>
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<p>In a Fanconi anemia cell line of complementation group B (<a href="/entry/300514">300514</a>) (HSC230), <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> found a frameshift mutation (1838insT) in exon 8 of the FANCB gene, resulting in a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011614" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011614" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011614</a>
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<p>In an individual with Fanconi anemia of complementation group B (<a href="/entry/300514">300514</a>), <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> found a 3,314-bp deletion of the FANCB gene that included the promoter region and exon 1 (10693del3314). The mother and sister of the proband were carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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">rs1569083679 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569083679;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=rs1569083679" 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=rs1569083679" 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=RCV000681853 OR RCV000851562" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000681853, RCV000851562" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000681853...</a>
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<p>In an individual considered a candidate for group B Fanconi anemia (<a href="/entry/300514">300514</a>) on the basis of exclusion from most of the other complementation groups, inability to monoubiquitinate FANCD2, and male gender, <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> found a frameshift mutation, 1650delT, in exon 8 of the FANCB gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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">rs1602005335 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602005335;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=rs1602005335" 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=rs1602005335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an individual selected as a candidate for Fanconi anemia complementation group B (<a href="/entry/300514">300514</a>) on the basis of exclusion from most of the other complementation groups, inability to monoubiquitinate FANCD2, and male gender, <a href="#5" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> found a frameshift mutation, 811insT, in exon 3 of the FANCB gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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">rs1569085810 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569085810;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=rs1569085810" 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=rs1569085810" 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=RCV000011617" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011617" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011617</a>
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<p><a href="#1" class="mim-tip-reference" title="Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G. <strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong> J. Med. Genet. 43: 750-754, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[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/10.1136/jmg.2006.041673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16679491">Holden et al. (2006)</a> demonstrated a splice site mutation in the FANCB gene in a fetus with Fanconi anemia (<a href="/entry/300514">300514</a>) who presented with the VACTERL with hydrocephalus phenotype. A G-to-A substitution in intron 7 mutated a highly conserved guanine residue at position +5 within the splice donor site (IVS7DS+5G-A). Sequencing of the mutant cDNA fragment from the affected male fetus showed that this caused skipping of exon 7, and a frameshift in the FANCB transcript with a stop codon at position 446 of the open reading frame. Both the mother and maternal grandmother were heterozygous for the mutation and showed 100% skewing of X inactivation, with the mutant FANCB allele being preferentially inactivated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16679491" 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">rs1569083185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569083185;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=rs1569083185" 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=rs1569083185" 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=RCV000030703" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030703" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030703</a>
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<p>In a 20-week-old male fetus with Fanconi anemia (<a href="/entry/300514">300514</a>) who presented with the VACTERL with hydrocephalus phenotype, <a href="#4" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> identified a 2150T-G transversion in the FANCB gene, resulting in a leu717-to-ter (L717X) substitution. This fetus was a member of a family originally reported by <a href="#3" class="mim-tip-reference" title="Hunter, A. G. W., MacMurray, B. <strong>Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle.</strong> Proc. Greenwood Genet. Center 6: 146-147, 1987."None>Hunter and MacMurray (1987)</a> as having X-linked VACTERL with hydrocephalus, and again by <a href="#8" class="mim-tip-reference" title="Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D. <strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong> Am. J. Med. Genet. 47: 114-117, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8368240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8368240</a>] [<a href="https://doi.org/10.1002/ajmg.1320470124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8368240">Wang et al. (1993)</a>, who noted that the affected individuals had Fanconi anemia. The maternal grandmother of the fetus reported by <a href="#4" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> was an obligate carrier and had highly skewed X inactivation in blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8368240+21910217" 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">rs1569083464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569083464;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=rs1569083464" 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=rs1569083464" 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=RCV000030704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030704</a>
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<p>In a 20-week-old male fetus with Fanconi anemia presenting as VACTERL with hydrocephalus (<a href="/entry/300514">300514</a>), <a href="#4" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> identified a 2-bp deletion (1857delAG) in the FANCB gene, resulting in a frameshift and premature termination. The mother had highly skewed X inactivation in blood. A maternal male cousin of the fetus died a few hours after delivery with similar multiple congenital malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Holden2006" class="mim-anchor"></a>
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Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G.
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<strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong>
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J. Med. Genet. 43: 750-754, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[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=16679491" 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/10.1136/jmg.2006.041673" target="_blank">Full Text</a>]
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Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., D'Andrea, A. D.
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<strong>Biallelic inactivation of BRCA2 in Fanconi anemia.</strong>
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Science 297: 606-609, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12065746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12065746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12065746" 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/10.1126/science.1073834" target="_blank">Full Text</a>]
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Hunter, A. G. W., MacMurray, B.
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<strong>Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle.</strong>
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Proc. Greenwood Genet. Center 6: 146-147, 1987.
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McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T.
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<strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong>
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Am. J. Med. Genet. 155A: 2370-2380, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank">Full Text</a>]
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Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H.
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<strong>X-linked inheritance of Fanconi anemia complementation group B.</strong>
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Nature Genet. 36: 1219-1224, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1458" target="_blank">Full Text</a>]
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Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W.
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<strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong>
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Molec. Cell. Biol. 23: 3417-3426, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12724401[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=12724401" 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/10.1128/MCB.23.10.3417-3426.2003" target="_blank">Full Text</a>]
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Shakeel, S., Rajendra, E., Alcon, P., O'Reilly, F., Chorev, D. S., Maslen, S., Degliesposti, G., Russo, C. J., He, S., Hill, C. H., Skehel, J. M., Scheres, S. H. W., Patel, K. J., Rappsilber, J., Robinson, C. V., Passmore, L. A.
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<strong>Structure of the Fanconi anaemia monoubiquitin ligase complex.</strong>
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Nature 575: 234-237, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31666700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31666700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31666700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-019-1703-4" target="_blank">Full Text</a>]
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Wang1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D.
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<strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong>
|
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Am. J. Med. Genet. 47: 114-117, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8368240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8368240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8368240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470124" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/06/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/23/2012<br>Victor A. McKusick - updated : 1/9/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/29/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 12/06/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/10/2013<br>carol : 9/7/2012<br>ckniffin : 8/23/2012<br>carol : 7/8/2009<br>carol : 7/8/2009<br>terry : 6/6/2008<br>alopez : 1/10/2007<br>terry : 1/9/2007<br>alopez : 10/11/2005<br>alopez : 11/29/2004
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300515
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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FANCB GENE; FANCB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 95-KD; FAAP95<br />
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FAAP90<br />
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FLJ34064
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FANCB</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: Xp22.2
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Genomic coordinates <span class="small">(GRCh38)</span> : X:14,689,524-14,873,069 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xp22.2
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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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Fanconi anemia, complementation group B
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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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300514
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>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>Meetei et al. (2003) purified a Fanconi anemia core complex containing 5 known Fanconi anemia proteins and 4 unknown components called Fanconi anemia-associated polypeptides (FAAPs). By mass spectrometric analysis, Meetei et al. (2004) identified FAAP95 as FLJ34064. FAAP95 has sequence homologs in mouse and chicken, but not in Drosophila melanogaster or Caenorhabditis elegans. The C terminus of the protein contains a putative bipartite nuclear localization signal. FAAP95 was retained mostly in the cytosolic extract of a FANCA (607139)-deficient cell line but became localized to the nuclear extract upon complementation by wildtype FANCA, similar to FANCL (608111). </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>Meetei et al. (2004) determined that the FAAP95 gene has 10 exons, with the translation start site in exon 3. </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 reciprocal immunoprecipitation with FAAP95 antibody, Meetei et al. (2004) demonstrated coprecipitation of several components of the Fanconi anemia core complex, including FANCL, FANCA, and FANCG (602956). FAAP95 coimmunoprecipitated much more FANCL than FANCA or FANCG, suggesting that the interaction between FAAP95 and FANCL may be direct. Meetei et al. (2004) demonstrated that depletion of FAAP95 reduced the amount of monoubiquitinated FANCD2 (227646), similar to depletion of other components of the Fanconi anemia core complex, indicating that FAAP95 protein is a functional component of this complex. Additionally, cells depleted of FAAP95 had less FANCL, suggesting that FAAP95 is required for the stability of FANCL. </p><p>The FAAP95 gene is situated in a region of the X chromosome where approximately 60% of the genes escape inactivation and are expressed biallelically. Studies of the methylation status of the gene by Meetei et al. (2004) showed, however, that this is not the case for FAAP95. Results indicated that FAAP95 is subject to total inactivation by methylation and that inactivation seems to be skewed toward the mutated allele. Because X inactivation takes place early in embryogenesis, selection over many subsequent cell generations may lead to almost complete overgrowth by normal cells. The presence of the FAAP95 gene as a single active copy and essentiality for a functional Fanconi anemia-BRCA (see 600185) pathway make FAAP95 a potentially vulnerable component of the cellular machinery that maintains genomic integrity. Although germline mutations in FAAP95 resulting in FANCB are exceedingly rare, somatic FAAP95 mutations might occur at the average spontaneous mutation rate. The occurrence of such Fanconi anemia-like cells may contribute to oncogenesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
|
|
Shakeel et al. (2019) reconstituted an active, recombinant Fanconi anemia core complex, and used cryoelectron microscopy and mass spectrometry to determine its structure. The FA core complex comprises 2 central dimers of the FANCB and FA-associated protein of 100 kD (FAAP100; 611301) subunits, flanked by 2 copies of the RING finger subunit FANCL. These 2 heterotrimers act as a scaffold to assemble the remaining 5 subunits, resulting in an extended asymmetric structure. Destabilization of the scaffold would disrupt the entire complex, resulting in a nonfunctional FA pathway. Thus, the structure provides a mechanistic basis for the low numbers of patients with mutations in FANCB, FANCL, and FAAP100. Despite a lack of sequence homology, FANCB and FAAP100 adopt similar structures. The 2 FANCL subunits are in different conformations at opposite ends of the complex, suggesting that each FANCL has a distinct role. Shakeel et al. (2019) suggested that this structural and functional asymmetry of dimeric RING finger domains may be a general feature of E3 ligases. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Meetei et al. (2004) determined that the FAAP95 gene is localized on chromosome Xp22.31. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 4 male individuals with Fanconi anemia (300514), Meetei et al. (2004) found different mutations in the FAAP95 gene (300515.0001-300515.0004). In 2 of the 4 families the mother was a carrier, and in 1 of these 2 a sister of the proband was also a carrier. The 3 female FANCB carriers studied were healthy and showed no Fanconi anemia-like symptoms, and their T cells responded normally to challenge with mitomycin C (MMC) without any sign of mosaicism. </p><p>Meetei et al. (2004) suggested that evidence that the BRCA2 gene (600185) underlies complementation group B, as suggested by the work of Howlett et al. (2002), was inconclusive. No complementation of a FANCB cell line by BRCA2 was reported, and no BRCA2 mutation was detected in another FANCB cell line; furthermore, cells with defective or depleted BRCA2 show normal monoubiquitination of FANCD2, unlike FANCB cells, which show defective FANCD2 monoubiquitination. </p><p>Holden et al. (2006) studied a family in which 2 male fetuses, related to each other as nephew and maternal uncle, had Fanconi anemia presenting as VACTERL with hydrocephalus (VACTERL-H). A fibroblast culture established from the proband fetus showed an increased number of chromosome breaks within the affected range observed in Fanconi anemia cells on breakage studies with diepoxybutane. X-inactivation studies in the mother and maternal grandmother of the proband fetus showed 100% skewing of X inactivation, a feature consistently found in females heterozygous for FANCB mutations. On screening of the 8 coding exons of FANCB, Holden et al. (2006) identified a G-to-A substitution in intron 7 which changed a highly conserved guanine residue at position +5 within the splice donor site (300515.0005). Sequencing of the mutant cDNA fragment from the proband fetus showed that this causes skipping of exon 7. The resulting frameshift in the FANCB transcript resulted in a stop codon at position 446 of the open reading frame. Sequencing of both obligate carrier females, mother and maternal grandmother, confirmed that they were heterozygous for the mutation. </p><p>McCauley et al. (2011) found that 4 of 10 probands with Fanconi anemia presenting with a VACTERL-H phenotype had mutations in the FANCB gene (see, e.g., 300515.0006 and 300515.0007). All patients were male, and all unaffected mothers had skewed X inactivation in peripheral blood. Two of the affected pregnancies were terminated at 20 weeks' gestation, 1 proband died at age 15 weeks, and 1 died at age 2 years, 10 months. All patients had multiple severe congenital anomalies, but only the patient who lived beyond the neonatal period developed anemia. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
FANCB, 1-BP INS, 1838T
|
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|
|
<br />
|
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|
|
SNP: rs1601977844,
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|
|
ClinVar: RCV000851564
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Fanconi anemia cell line of complementation group B (300514) (HSC230), Meetei et al. (2004) found a frameshift mutation (1838insT) in exon 8 of the FANCB gene, resulting in a premature stop codon. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP B</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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FANCB, 3314-BP DEL
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<br />
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ClinVar: RCV000011614
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an individual with Fanconi anemia of complementation group B (300514), Meetei et al. (2004) found a 3,314-bp deletion of the FANCB gene that included the promoter region and exon 1 (10693del3314). The mother and sister of the proband were carriers. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP B</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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FANCB, 1-BP DEL, 1650T
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<br />
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SNP: rs1569083679,
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ClinVar: RCV000681853, RCV000851562
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</span>
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</div>
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<span class="mim-text-font">
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<p>In an individual considered a candidate for group B Fanconi anemia (300514) on the basis of exclusion from most of the other complementation groups, inability to monoubiquitinate FANCD2, and male gender, Meetei et al. (2004) found a frameshift mutation, 1650delT, in exon 8 of the FANCB 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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<span class="mim-font">
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<strong>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP B</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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FANCB, 1-BP INS, 811T
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<br />
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SNP: rs1602005335,
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ClinVar: RCV000851555
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an individual selected as a candidate for Fanconi anemia complementation group B (300514) on the basis of exclusion from most of the other complementation groups, inability to monoubiquitinate FANCD2, and male gender, Meetei et al. (2004) found a frameshift mutation, 811insT, in exon 3 of the FANCB 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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 FANCONI ANEMIA, COMPLEMENTATION GROUP B</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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FANCB, IVS7DS, G-A, +5
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<br />
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SNP: rs1569085810,
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ClinVar: RCV000011617
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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>Holden et al. (2006) demonstrated a splice site mutation in the FANCB gene in a fetus with Fanconi anemia (300514) who presented with the VACTERL with hydrocephalus phenotype. A G-to-A substitution in intron 7 mutated a highly conserved guanine residue at position +5 within the splice donor site (IVS7DS+5G-A). Sequencing of the mutant cDNA fragment from the affected male fetus showed that this caused skipping of exon 7, and a frameshift in the FANCB transcript with a stop codon at position 446 of the open reading frame. Both the mother and maternal grandmother were heterozygous for the mutation and showed 100% skewing of X inactivation, with the mutant FANCB allele being preferentially inactivated. </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>.0006 FANCONI ANEMIA, COMPLEMENTATION GROUP B</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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FANCB, LEU717TER
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<br />
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SNP: rs1569083185,
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ClinVar: RCV000030703
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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 20-week-old male fetus with Fanconi anemia (300514) who presented with the VACTERL with hydrocephalus phenotype, McCauley et al. (2011) identified a 2150T-G transversion in the FANCB gene, resulting in a leu717-to-ter (L717X) substitution. This fetus was a member of a family originally reported by Hunter and MacMurray (1987) as having X-linked VACTERL with hydrocephalus, and again by Wang et al. (1993), who noted that the affected individuals had Fanconi anemia. The maternal grandmother of the fetus reported by McCauley et al. (2011) was an obligate carrier and had highly skewed X inactivation in blood. </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>.0007 FANCONI ANEMIA, COMPLEMENTATION GROUP B</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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FANCB, 2-BP DEL, 1857AG
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<br />
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SNP: rs1569083464,
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ClinVar: RCV000030704
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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 20-week-old male fetus with Fanconi anemia presenting as VACTERL with hydrocephalus (300514), McCauley et al. (2011) identified a 2-bp deletion (1857delAG) in the FANCB gene, resulting in a frameshift and premature termination. The mother had highly skewed X inactivation in blood. A maternal male cousin of the fetus died a few hours after delivery with similar multiple congenital malformations. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G.
|
|
<strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong>
|
|
J. Med. Genet. 43: 750-754, 2006.
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[PubMed: 16679491]
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[Full Text: https://doi.org/10.1136/jmg.2006.041673]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., D'Andrea, A. D.
|
|
<strong>Biallelic inactivation of BRCA2 in Fanconi anemia.</strong>
|
|
Science 297: 606-609, 2002.
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[PubMed: 12065746]
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[Full Text: https://doi.org/10.1126/science.1073834]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hunter, A. G. W., MacMurray, B.
|
|
<strong>Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle.</strong>
|
|
Proc. Greenwood Genet. Center 6: 146-147, 1987.
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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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McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T.
|
|
<strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong>
|
|
Am. J. Med. Genet. 155A: 2370-2380, 2011.
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[PubMed: 21910217]
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[Full Text: https://doi.org/10.1002/ajmg.a.33913]
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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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Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H.
|
|
<strong>X-linked inheritance of Fanconi anemia complementation group B.</strong>
|
|
Nature Genet. 36: 1219-1224, 2004.
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[PubMed: 15502827]
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[Full Text: https://doi.org/10.1038/ng1458]
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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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Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W.
|
|
<strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong>
|
|
Molec. Cell. Biol. 23: 3417-3426, 2003.
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|
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[PubMed: 12724401]
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[Full Text: https://doi.org/10.1128/MCB.23.10.3417-3426.2003]
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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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Shakeel, S., Rajendra, E., Alcon, P., O'Reilly, F., Chorev, D. S., Maslen, S., Degliesposti, G., Russo, C. J., He, S., Hill, C. H., Skehel, J. M., Scheres, S. H. W., Patel, K. J., Rappsilber, J., Robinson, C. V., Passmore, L. A.
|
|
<strong>Structure of the Fanconi anaemia monoubiquitin ligase complex.</strong>
|
|
Nature 575: 234-237, 2019.
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[PubMed: 31666700]
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[Full Text: https://doi.org/10.1038/s41586-019-1703-4]
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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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Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D.
|
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<strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong>
|
|
Am. J. Med. Genet. 47: 114-117, 1993.
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[PubMed: 8368240]
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[Full Text: https://doi.org/10.1002/ajmg.1320470124]
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</p>
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</li>
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</ol>
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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 class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/06/2019<br>Cassandra L. Kniffin - updated : 8/23/2012<br>Victor A. McKusick - updated : 1/9/2007
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<span class="mim-text-font">
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Victor A. McKusick : 11/29/2004
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alopez : 12/06/2019<br>carol : 09/10/2013<br>carol : 9/7/2012<br>ckniffin : 8/23/2012<br>carol : 7/8/2009<br>carol : 7/8/2009<br>terry : 6/6/2008<br>alopez : 1/10/2007<br>terry : 1/9/2007<br>alopez : 10/11/2005<br>alopez : 11/29/2004
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