3369 lines
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Entry
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- *613897 - FANCF GENE; FANCF
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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">*613897</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613897">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000183161;t=ENST00000327470" 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=2188" 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=613897" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000183161;t=ENST00000327470" 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_022725" 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_022725" 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=613897" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/FANCF" 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/6715135,6715137,10434947,12232377,23821547,34365355,55249547,59860523,62739794,62898115,75516824,119588725,127799049,193786081" 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/Q9NPI8" 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=2188" 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=ENSG00000183161;t=ENST00000327470" 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=FANCF" 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=FANCF" 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+2188" 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/FANCF" 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:2188" 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/2188" 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=chr11&hgg_gene=ENST00000327470.6&hgg_start=22622533&hgg_end=22625823&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:3587" 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:3587" 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=613897[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=613897[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000183161" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=FANCF" 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=FANCF" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FANCF&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/PA28001" 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:3587" 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:3689889" 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/FANCF#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:3689889" 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/2188/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=2188" 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-060306-3" 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:2188" 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=FANCF&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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613897
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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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FANCF GENE; FANCF
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FANCF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FANCF</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/11/245?start=-3&limit=10&highlight=245">11p14.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:22622533-22625823&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'})">11:22,622,533-22,625,823</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/11/245?start=-3&limit=10&highlight=245">
|
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11p14.3
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Fanconi anemia, complementation group F
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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/603467"> 603467 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613897" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613897" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By complementation cloning, <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">de Winter et al. (2000)</a> identified the gene mutated in Fanconi anemia group F (<a href="/entry/603467">603467</a>). They found that the FANCF gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. The region of homology with ROM comprises the N terminus of the prokaryotic protein, which is the region involved in RNA binding. The homologous region in FANCF is predicted to form an alpha-helical structure. <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">De Winter et al. (2000)</a> suggested that this homology may provide a foothold for functional analysis of the pathway that is defective in FA patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">De Winter et al. (2000)</a> determined that the FANCF gene has no introns. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">De Winter et al. (2000)</a> found that the FANCF cDNA was identical to several ESTs mapped to chromosome 11p15, between microsatellite markers D11S1359 and D11S929. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" 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="#3" class="mim-tip-reference" title="de Winter, J. P., van der Weel, L., de Groot, J., Stone, S., Waisfisz, Q., Arwert, F., Scheper, R. J., Kruyt, F. A. E., Hoatlin, M. E., Joenje, H. <strong>The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.</strong> Hum. Molec. Genet. 9: 2665-2674, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11063725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11063725</a>] [<a href="https://doi.org/10.1093/hmg/9.18.2665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11063725">De Winter et al. (2000)</a> studied the subcellular localizations and mutual interactions of the FA proteins in human lymphoblasts. FANCF was found predominantly in the nucleus, where it complexes with FANCA (<a href="/entry/607139">607139</a>), FANCC (<a href="/entry/227645">227645</a>), and FANCG (<a href="/entry/602956">602956</a>). These interactions were detected in wildtype and FANCD (FANCD2; <a href="/entry/227646">227646</a>) lymphoblasts, but not in lymphoblasts of other FA complementation groups. The authors hypothesized that each of the FA proteins, except FANCD, is required for complex formation, and that the multiprotein FA complex serves a nuclear function to maintain genomic integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11063725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By coimmunoprecipitation of HeLa cell nuclear extracts, <a href="#5" 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> identified 3 distinct multiprotein complexes associated with BLM (RECQL3; <a href="/entry/604610">604610</a>). One of the complexes, designated BRAFT, contained the Fanconi anemia core complementation group proteins FANCA (<a href="/entry/607139">607139</a>), FANCG, FANCC, FANCE (<a href="/entry/600901">600901</a>), and FANCF, as well as topoisomerase III-alpha (TOP3A; <a href="/entry/601243">601243</a>) and replication protein A (RPA; see <a href="/entry/179835">179835</a>). BLM complexes isolated from an FA cell line had a lower molecular mass, likely due to loss of FANCA and other FA components. BLM- and FANCA-associated complexes had DNA unwinding activity, and BLM was required for this activity. <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'})"><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>Using yeast 2-hybrid and coimmunoprecipitation assays, <a href="#6" class="mim-tip-reference" title="Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M. <strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong> Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550849[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/10.1182/blood-2008-04-152710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550849">Tremblay et al. (2008)</a> found that HES1 (<a href="/entry/139605">139605</a>), a NOTCH1 (<a href="/entry/190198">190198</a>) pathway component involved in hematopoietic stem cell (HSC) self-renewal, interacted directly with FANCA, FANCF, FANCG, and FANCL (PHF9; <a href="/entry/608111">608111</a>), but not with other FA core complex components. Mutation analysis showed that interactions with individual FA core components required different domains within HES1. HES1 did not interact with FA core components if any of them contained an FA-related mutation, suggesting that a functional FA pathway is required for HES1 interaction. Depletion of HES1 from HeLa cells resulted in failure of normal interactions between individual FA core components, as well as altered protein levels and mislocalization of some FA core components. Depletion of HES1 also increased cell sensitivity to the DNA crosslinking agent mitomycin C (MMC) and reduced MMC-induced monoubiquitination of FANCD2 and localization of FANCD2 to MMC-induced foci. <a href="#6" class="mim-tip-reference" title="Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M. <strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong> Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550849[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/10.1182/blood-2008-04-152710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550849">Tremblay et al. (2008)</a> concluded that interaction with HES1 is required for normal FA core complex function in the DNA damage response. They proposed that the HSC defect in FA may result from the inability of HES1 to interact with the defective FA core complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">De Winter et al. (2000)</a> identified mutations (<a href="#0001">613897.0001</a>-<a href="#0005">613897.0005</a>) in the FANCF gene in 4 cell lines of Fanconi anemia complementation group F. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with a severe phenotype of FANCF, <a href="#7" class="mim-tip-reference" title="Tryon, R., Zierhut, H., MacMillan, M. L., Wagner, J. E. <strong>Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.</strong> Am. J. Med. Genet. 173A: 260-263, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27714961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27714961</a>] [<a href="https://doi.org/10.1002/ajmg.a.37998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27714961">Tryon et al. (2017)</a> identified a c.484_485delCT mutation (<a href="#0004">613897.0004</a>) in the FANCF gene in compound heterozygosity. Patient 1 additionally carried a 14-bp deletion (c.438_451del; <a href="#0006">613897.0006</a>), and patient 2 a 1-bp deletion (<a href="#0007">613897.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27714961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3.5-year-old girl with Fanconi anemia, <a href="#8" class="mim-tip-reference" title="Zareifar, S., Dastsooz, H., Shahriari, M., Faghihi, M. A., Shekarkhar, G., Bordbar, M., Zekavat, O. R., Shakibazad, N. <strong>A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.</strong> BMC Med. Genet. 20: 122, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31288759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31288759</a>] [<a href="https://doi.org/10.1186/s12881-019-0855-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31288759">Zareifar et al. (2019)</a> identified a novel homozygous frameshift mutation (c.534delG; <a href="#0008">613897.0008</a>) in the FANCF gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31288759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bakker, S. T., van de Vrugt, H. J., Visser, J. A., Delzenne-Goette, E., van der Wal, A., Berns, A. D., van de Ven, M., Oostra, A. B., de Vries, S., Kramer, P., Arwert, F., van der Valk, M., de Winter, J. P., te Riele, H. <strong>Fancf-deficient mice are prone to develop ovarian tumours.</strong> J. Path. 226: 28-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21915857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21915857</a>] [<a href="https://doi.org/10.1002/path.2992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21915857">Bakker et al. (2012)</a> found that Fancf-knockout mice were born at the expected mendelian distribution and had a normal phenotype at birth. However, Fancf-knockout mice had a reduced overall survival rate and became increasingly tumor prone with age. The types of cancers varied in Fancf-knockout mice, with an excess of lung and ovarian tumors. Fancf-knockout mice had abnormal gonads, similar to other FA mouse models and FA patients. Fancf-knockout ovaries had a strongly reduced primordial follicle pool, implying increased ovarian aging, and some females had an abnormal estrous cycle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21915857" 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="/allelicVariants/613897" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613897[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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<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP F</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs730880277 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880277;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs730880277?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730880277" 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=rs730880277" 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=RCV000006712 OR RCV000472440" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006712, RCV000472440" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006712...</a>
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<p>In a cell line (EUFA698) of Fanconi anemia complementation group F (FANCF; <a href="/entry/603467">603467</a>), <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">de Winter et al. (2000)</a> found homozygosity for a deletion of nucleotides 230-252 in the FANCF gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP F</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730880278 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880278;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=rs730880278" 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=rs730880278" 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=RCV000006713 OR RCV001233686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006713, RCV001233686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006713...</a>
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<p>In the reference Fanconi anemia complementation group F (FA-F) (FANCF; <a href="/entry/603467">603467</a>) cell line EUFA121 (<a href="#4" class="mim-tip-reference" title="Joenje, H., Oostra, A. B., Wijker, M., di Summa, F. M., van Berkel, C. G. M., Rooimans, M. A., Ebell, W., van Weel, M., Pronk, J. C., Buchwald, M., Arwert, F. <strong>Evidence for at least eight Fanconi anemia genes.</strong> Am. J. Hum. Genet. 61: 940-944, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382107</a>] [<a href="https://doi.org/10.1086/514881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382107">Joenje et al., 1997</a>), <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">de Winter et al. (2000)</a> found compound heterozygosity for a 47-bp deletion (349_395del) in the FANCF gene and a 16C-T transition resulting in a gln6-to-ter (Q6X; <a href="#0003">613897.0003</a>) nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9382107+10615118" 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>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP F</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894221 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894221;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894221?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894221" 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=rs104894221" 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=RCV000006714" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006714" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006714</a>
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<p>For discussion of the gln6-to-ter (Q6X) mutation in the FANCF gene that was found in compound heterozygous state in the reference Fanconi anemia complementation group F (FA-F) (FANCF; <a href="/entry/603467">603467</a>) cell line EUFA121 by <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">de Winter et al. (2000)</a>, see <a href="#0002">613897.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587778340 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587778340;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587778340?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587778340" 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=rs587778340" 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=RCV000006715 OR RCV000121020 OR RCV000820044 OR RCV001588802 OR RCV004752688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006715, RCV000121020, RCV000820044, RCV001588802, RCV004752688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006715...</a>
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<p>In the Fanconi anemia complementation group F (FA-F) (FANCF; <a href="/entry/603467">603467</a>) cell line BD497 in which the FANCF protein was absent, <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">de Winter et al. (2000)</a> found homozygosity for a 2-bp deletion in the FANCF gene (484_485del). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with FANCF with a severe phenotype, <a href="#7" class="mim-tip-reference" title="Tryon, R., Zierhut, H., MacMillan, M. L., Wagner, J. E. <strong>Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.</strong> Am. J. Med. Genet. 173A: 260-263, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27714961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27714961</a>] [<a href="https://doi.org/10.1002/ajmg.a.37998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27714961">Tryon et al. (2017)</a> identified the c.484_485delCT mutation in compound heterozygosity, with a 14-bp deletion (c.438_451del; <a href="#0006">613897.0006</a>) in patient 1 and with a 1-bp deletion (c.219delG; <a href="#0007">613897.0007</a>) in patient 2. The c.484_485delCT mutation was inherited from the father in both cases. Patient 1 was a 3-year-old girl with multiple congenital anomalies and early-onset bone marrow failure. Patient 2 was a 12-year-old boy with multiple congenital anomalies and early-onset myelodysplastic syndrome. Both patients underwent hematopoietic cell transplant (HCT); patient 1 died 144 days later, and patient 2 was alive at the time of the report approximately 7.5 years after HCT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27714961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 FANCONI ANEMIA, COMPLEMENTATION GROUP F</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894222 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894222;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894222?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894222" 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=rs104894222" 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=RCV000006716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006716</a>
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<p>In Fanconi anemia complementation group F (FA-F) (FANCF; <a href="/entry/603467">603467</a>) cell line EUFA927 in which the FANCF protein was absent, <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong> Nature Genet. 24: 15-16, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>] [<a href="https://doi.org/10.1038/71626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10615118">de Winter et al. (2000)</a> found a 327C-G transversion in the FANCF gene resulting in a tyr109-to-ter (Y109X) nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs778546226 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs778546226;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs778546226?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs778546226" 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=rs778546226" 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=RCV001520573" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001520573" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001520573</a>
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<p>For discussion of the 14-bp deletion (c.438_451del) in the FANCF gene that was found in compound heterozygous state in patient 1 with Fanconi anemia complementation group F (FANCF; <a href="/entry/603467">603467</a>) by <a href="#7" class="mim-tip-reference" title="Tryon, R., Zierhut, H., MacMillan, M. L., Wagner, J. E. <strong>Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.</strong> Am. J. Med. Genet. 173A: 260-263, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27714961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27714961</a>] [<a href="https://doi.org/10.1002/ajmg.a.37998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27714961">Tryon et al. (2017)</a>, see <a href="#0004">613897.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27714961" 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">rs1858634363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1858634363;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=rs1858634363" 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=rs1858634363" 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=RCV001194786 OR RCV001382650" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001194786, RCV001382650" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001194786...</a>
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<p>For discussion of the 1-bp deletion (c.219delG) in the FANCF gene that was found in compound heterozygous state in patient 2 with Fanconi anemia complementation group F (FANCF; <a href="/entry/603467">603467</a>) by <a href="#7" class="mim-tip-reference" title="Tryon, R., Zierhut, H., MacMillan, M. L., Wagner, J. E. <strong>Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.</strong> Am. J. Med. Genet. 173A: 260-263, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27714961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27714961</a>] [<a href="https://doi.org/10.1002/ajmg.a.37998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27714961">Tryon et al. (2017)</a>, see <a href="#0004">613897.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27714961" 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">rs2133797515 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2133797515;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=rs2133797515" 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=rs2133797515" 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=RCV001520576" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001520576" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001520576</a>
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<p>In a 3.5-year-old girl, born of first-cousin Iranian parents, with Fanconi anemia (FANCF; <a href="/entry/603467">603467</a>), <a href="#8" class="mim-tip-reference" title="Zareifar, S., Dastsooz, H., Shahriari, M., Faghihi, M. A., Shekarkhar, G., Bordbar, M., Zekavat, O. R., Shakibazad, N. <strong>A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.</strong> BMC Med. Genet. 20: 122, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31288759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31288759</a>] [<a href="https://doi.org/10.1186/s12881-019-0855-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31288759">Zareifar et al. (2019)</a> detected a homozygous 1-bp deletion (c.534delG, NM_022725) in exon 1 of the FANCF gene, resulting in frameshift (G178fs). The mutation was identified by next-generation sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31288759" 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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Bakker, S. T., van de Vrugt, H. J., Visser, J. A., Delzenne-Goette, E., van der Wal, A., Berns, A. D., van de Ven, M., Oostra, A. B., de Vries, S., Kramer, P., Arwert, F., van der Valk, M., de Winter, J. P., te Riele, H.
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<strong>Fancf-deficient mice are prone to develop ovarian tumours.</strong>
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J. Path. 226: 28-39, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21915857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21915857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21915857" 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/path.2992" target="_blank">Full Text</a>]
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de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H.
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<strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong>
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Nature Genet. 24: 15-16, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10615118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10615118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615118" 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/10.1038/71626" target="_blank">Full Text</a>]
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de Winter, J. P., van der Weel, L., de Groot, J., Stone, S., Waisfisz, Q., Arwert, F., Scheper, R. J., Kruyt, F. A. E., Hoatlin, M. E., Joenje, H.
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<strong>The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.</strong>
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Hum. Molec. Genet. 9: 2665-2674, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11063725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11063725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11063725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Joenje, H., Oostra, A. B., Wijker, M., di Summa, F. M., van Berkel, C. G. M., Rooimans, M. A., Ebell, W., van Weel, M., Pronk, J. C., Buchwald, M., Arwert, F.
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<strong>Evidence for at least eight Fanconi anemia genes.</strong>
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Am. J. Hum. Genet. 61: 940-944, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382107" 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/10.1086/514881" 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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<a id="6" class="mim-anchor"></a>
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<a id="Tremblay2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M.
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<strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong>
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Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550849[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=18550849" 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/10.1182/blood-2008-04-152710" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Tryon2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tryon, R., Zierhut, H., MacMillan, M. L., Wagner, J. E.
|
|
<strong>Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.</strong>
|
|
Am. J. Med. Genet. 173A: 260-263, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27714961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27714961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27714961" 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.37998" target="_blank">Full Text</a>]
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</p>
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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="Zareifar2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zareifar, S., Dastsooz, H., Shahriari, M., Faghihi, M. A., Shekarkhar, G., Bordbar, M., Zekavat, O. R., Shakibazad, N.
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<strong>A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.</strong>
|
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BMC Med. Genet. 20: 122, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31288759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31288759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31288759" 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/10.1186/s12881-019-0855-2" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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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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</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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Kelly A. Przylepa - updated : 06/11/2021
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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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Alan F. Scott - updated : 04/26/2021
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</span>
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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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Anne M. Stumpf : 4/12/2011
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</span>
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</div>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 06/21/2021
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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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alopez : 06/16/2021<br>alopez : 06/11/2021<br>mgross : 04/26/2021<br>carol : 02/18/2015<br>carol : 2/6/2015<br>mcolton : 2/5/2015<br>terry : 5/29/2012<br>terry : 5/11/2011<br>alopez : 4/12/2011<br>alopez : 4/12/2011
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</span>
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<div class="container visible-print-block">
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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> 613897
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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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FANCF GENE; FANCF
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FANCF</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 11p14.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:22,622,533-22,625,823 </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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<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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<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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11p14.3
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<td>
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<span class="mim-font">
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Fanconi anemia, complementation group F
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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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603467
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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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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<br />
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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>By complementation cloning, de Winter et al. (2000) identified the gene mutated in Fanconi anemia group F (603467). They found that the FANCF gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. The region of homology with ROM comprises the N terminus of the prokaryotic protein, which is the region involved in RNA binding. The homologous region in FANCF is predicted to form an alpha-helical structure. De Winter et al. (2000) suggested that this homology may provide a foothold for functional analysis of the pathway that is defective in FA patients. </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>De Winter et al. (2000) determined that the FANCF gene has no introns. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>De Winter et al. (2000) found that the FANCF cDNA was identical to several ESTs mapped to chromosome 11p15, between microsatellite markers D11S1359 and D11S929. </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>De Winter et al. (2000) studied the subcellular localizations and mutual interactions of the FA proteins in human lymphoblasts. FANCF was found predominantly in the nucleus, where it complexes with FANCA (607139), FANCC (227645), and FANCG (602956). These interactions were detected in wildtype and FANCD (FANCD2; 227646) lymphoblasts, but not in lymphoblasts of other FA complementation groups. The authors hypothesized that each of the FA proteins, except FANCD, is required for complex formation, and that the multiprotein FA complex serves a nuclear function to maintain genomic integrity. </p><p>By coimmunoprecipitation of HeLa cell nuclear extracts, Meetei et al. (2003) identified 3 distinct multiprotein complexes associated with BLM (RECQL3; 604610). One of the complexes, designated BRAFT, contained the Fanconi anemia core complementation group proteins FANCA (607139), FANCG, FANCC, FANCE (600901), and FANCF, as well as topoisomerase III-alpha (TOP3A; 601243) and replication protein A (RPA; see 179835). BLM complexes isolated from an FA cell line had a lower molecular mass, likely due to loss of FANCA and other FA components. BLM- and FANCA-associated complexes had DNA unwinding activity, and BLM was required for this activity. </p><p>Using yeast 2-hybrid and coimmunoprecipitation assays, Tremblay et al. (2008) found that HES1 (139605), a NOTCH1 (190198) pathway component involved in hematopoietic stem cell (HSC) self-renewal, interacted directly with FANCA, FANCF, FANCG, and FANCL (PHF9; 608111), but not with other FA core complex components. Mutation analysis showed that interactions with individual FA core components required different domains within HES1. HES1 did not interact with FA core components if any of them contained an FA-related mutation, suggesting that a functional FA pathway is required for HES1 interaction. Depletion of HES1 from HeLa cells resulted in failure of normal interactions between individual FA core components, as well as altered protein levels and mislocalization of some FA core components. Depletion of HES1 also increased cell sensitivity to the DNA crosslinking agent mitomycin C (MMC) and reduced MMC-induced monoubiquitination of FANCD2 and localization of FANCD2 to MMC-induced foci. Tremblay et al. (2008) concluded that interaction with HES1 is required for normal FA core complex function in the DNA damage response. They proposed that the HSC defect in FA may result from the inability of HES1 to interact with the defective FA core complex. </p>
|
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>De Winter et al. (2000) identified mutations (613897.0001-613897.0005) in the FANCF gene in 4 cell lines of Fanconi anemia complementation group F. </p><p>In 2 patients with a severe phenotype of FANCF, Tryon et al. (2017) identified a c.484_485delCT mutation (613897.0004) in the FANCF gene in compound heterozygosity. Patient 1 additionally carried a 14-bp deletion (c.438_451del; 613897.0006), and patient 2 a 1-bp deletion (613897.0007). </p><p>In a 3.5-year-old girl with Fanconi anemia, Zareifar et al. (2019) identified a novel homozygous frameshift mutation (c.534delG; 613897.0008) in the FANCF gene. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Bakker et al. (2012) found that Fancf-knockout mice were born at the expected mendelian distribution and had a normal phenotype at birth. However, Fancf-knockout mice had a reduced overall survival rate and became increasingly tumor prone with age. The types of cancers varied in Fancf-knockout mice, with an excess of lung and ovarian tumors. Fancf-knockout mice had abnormal gonads, similar to other FA mouse models and FA patients. Fancf-knockout ovaries had a strongly reduced primordial follicle pool, implying increased ovarian aging, and some females had an abnormal estrous cycle. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>8 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP F</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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FANCF, 23-BP DEL, NT230
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<br />
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SNP: rs730880277,
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|
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gnomAD: rs730880277,
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ClinVar: RCV000006712, RCV000472440
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a cell line (EUFA698) of Fanconi anemia complementation group F (FANCF; 603467), de Winter et al. (2000) found homozygosity for a deletion of nucleotides 230-252 in the FANCF 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>
|
|
<span class="mim-font">
|
|
<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP F</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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FANCF, 45-BP DEL, NT349
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<br />
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|
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SNP: rs730880278,
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ClinVar: RCV000006713, RCV001233686
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</span>
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<span class="mim-text-font">
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<p>In the reference Fanconi anemia complementation group F (FA-F) (FANCF; 603467) cell line EUFA121 (Joenje et al., 1997), de Winter et al. (2000) found compound heterozygosity for a 47-bp deletion (349_395del) in the FANCF gene and a 16C-T transition resulting in a gln6-to-ter (Q6X; 613897.0003) nonsense mutation. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP F</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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FANCF, GLN6TER
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<br />
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SNP: rs104894221,
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gnomAD: rs104894221,
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ClinVar: RCV000006714
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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>For discussion of the gln6-to-ter (Q6X) mutation in the FANCF gene that was found in compound heterozygous state in the reference Fanconi anemia complementation group F (FA-F) (FANCF; 603467) cell line EUFA121 by de Winter et al. (2000), see 613897.0002. </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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<h4>
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<span class="mim-font">
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<strong>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP F</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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FANCF, 2-BP DEL, NT484
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<br />
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SNP: rs587778340,
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gnomAD: rs587778340,
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ClinVar: RCV000006715, RCV000121020, RCV000820044, RCV001588802, RCV004752688
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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 the Fanconi anemia complementation group F (FA-F) (FANCF; 603467) cell line BD497 in which the FANCF protein was absent, de Winter et al. (2000) found homozygosity for a 2-bp deletion in the FANCF gene (484_485del). </p><p>In 2 patients with FANCF with a severe phenotype, Tryon et al. (2017) identified the c.484_485delCT mutation in compound heterozygosity, with a 14-bp deletion (c.438_451del; 613897.0006) in patient 1 and with a 1-bp deletion (c.219delG; 613897.0007) in patient 2. The c.484_485delCT mutation was inherited from the father in both cases. Patient 1 was a 3-year-old girl with multiple congenital anomalies and early-onset bone marrow failure. Patient 2 was a 12-year-old boy with multiple congenital anomalies and early-onset myelodysplastic syndrome. Both patients underwent hematopoietic cell transplant (HCT); patient 1 died 144 days later, and patient 2 was alive at the time of the report approximately 7.5 years after HCT. </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 F</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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FANCF, TYR109TER
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<br />
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SNP: rs104894222,
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gnomAD: rs104894222,
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ClinVar: RCV000006716
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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 Fanconi anemia complementation group F (FA-F) (FANCF; 603467) cell line EUFA927 in which the FANCF protein was absent, de Winter et al. (2000) found a 327C-G transversion in the FANCF gene resulting in a tyr109-to-ter (Y109X) nonsense mutation. </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 F</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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FANCF, 14-BP DEL , NT438
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<br />
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SNP: rs778546226,
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gnomAD: rs778546226,
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ClinVar: RCV001520573
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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>For discussion of the 14-bp deletion (c.438_451del) in the FANCF gene that was found in compound heterozygous state in patient 1 with Fanconi anemia complementation group F (FANCF; 603467) by Tryon et al. (2017), see 613897.0004. </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 F</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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FANCF, 1-BP DEL, 219G
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<br />
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SNP: rs1858634363,
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ClinVar: RCV001194786, RCV001382650
|
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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>For discussion of the 1-bp deletion (c.219delG) in the FANCF gene that was found in compound heterozygous state in patient 2 with Fanconi anemia complementation group F (FANCF; 603467) by Tryon et al. (2017), see 613897.0004. </p>
|
|
</span>
|
|
</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>.0008 FANCONI ANEMIA, COMPLEMENTATION GROUP F</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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FANCF, 1-BP DEL, 534G
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|
<br />
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SNP: rs2133797515,
|
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|
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|
|
ClinVar: RCV001520576
|
|
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</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3.5-year-old girl, born of first-cousin Iranian parents, with Fanconi anemia (FANCF; 603467), Zareifar et al. (2019) detected a homozygous 1-bp deletion (c.534delG, NM_022725) in exon 1 of the FANCF gene, resulting in frameshift (G178fs). The mutation was identified by next-generation sequencing and confirmed by Sanger sequencing. </p>
|
|
</span>
|
|
</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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
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|
<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Bakker, S. T., van de Vrugt, H. J., Visser, J. A., Delzenne-Goette, E., van der Wal, A., Berns, A. D., van de Ven, M., Oostra, A. B., de Vries, S., Kramer, P., Arwert, F., van der Valk, M., de Winter, J. P., te Riele, H.
|
|
<strong>Fancf-deficient mice are prone to develop ovarian tumours.</strong>
|
|
J. Path. 226: 28-39, 2012.
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[PubMed: 21915857]
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[Full Text: https://doi.org/10.1002/path.2992]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
de Winter, J. P., Rooimans, M. A., van der Weel, L., van Berkel, C. G. M., Alon, N., Bosnoyan-Collins, L., de Groot, J., Zhi, Y., Waisfisz, Q., Pronk, J. C., Arwert, F., Mathew, C. G., Scheper, R. J., Hoatlin, M. E., Buchwald, M., Joenje, H.
|
|
<strong>The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter)</strong>
|
|
Nature Genet. 24: 15-16, 2000.
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[PubMed: 10615118]
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[Full Text: https://doi.org/10.1038/71626]
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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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de Winter, J. P., van der Weel, L., de Groot, J., Stone, S., Waisfisz, Q., Arwert, F., Scheper, R. J., Kruyt, F. A. E., Hoatlin, M. E., Joenje, H.
|
|
<strong>The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.</strong>
|
|
Hum. Molec. Genet. 9: 2665-2674, 2000.
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[PubMed: 11063725]
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[Full Text: https://doi.org/10.1093/hmg/9.18.2665]
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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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Joenje, H., Oostra, A. B., Wijker, M., di Summa, F. M., van Berkel, C. G. M., Rooimans, M. A., Ebell, W., van Weel, M., Pronk, J. C., Buchwald, M., Arwert, F.
|
|
<strong>Evidence for at least eight Fanconi anemia genes.</strong>
|
|
Am. J. Hum. Genet. 61: 940-944, 1997.
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[PubMed: 9382107]
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[Full Text: https://doi.org/10.1086/514881]
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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.
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<strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong>
|
|
Molec. Cell. Biol. 23: 3417-3426, 2003.
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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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Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M.
|
|
<strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong>
|
|
Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.
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|
[PubMed: 18550849]
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[Full Text: https://doi.org/10.1182/blood-2008-04-152710]
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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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Tryon, R., Zierhut, H., MacMillan, M. L., Wagner, J. E.
|
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<strong>Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.</strong>
|
|
Am. J. Med. Genet. 173A: 260-263, 2017.
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[PubMed: 27714961]
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[Full Text: https://doi.org/10.1002/ajmg.a.37998]
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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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Zareifar, S., Dastsooz, H., Shahriari, M., Faghihi, M. A., Shekarkhar, G., Bordbar, M., Zekavat, O. R., Shakibazad, N.
|
|
<strong>A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.</strong>
|
|
BMC Med. Genet. 20: 122, 2019.
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[PubMed: 31288759]
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[Full Text: https://doi.org/10.1186/s12881-019-0855-2]
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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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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 06/11/2021<br>Alan F. Scott - updated : 04/26/2021
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</span>
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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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Anne M. Stumpf : 4/12/2011
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carol : 06/21/2021<br>alopez : 06/16/2021<br>alopez : 06/11/2021<br>mgross : 04/26/2021<br>carol : 02/18/2015<br>carol : 2/6/2015<br>mcolton : 2/5/2015<br>terry : 5/29/2012<br>terry : 5/11/2011<br>alopez : 4/12/2011<br>alopez : 4/12/2011
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