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Entry
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- *608922 - ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B
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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">*608922</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608922">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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=ENSG00000169379;t=ENST00000394222" 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=200894" 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=608922" 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 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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</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=ENSG00000169379;t=ENST00000394222" 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_001174150,NM_001174151,NM_001321328,NM_001410782,NM_144996,NM_182896,NR_033427,NR_135621,XM_006713532,XM_011512532,XM_011512533,XM_011512535,XM_017005853,XM_047447661" 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_001174150" 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=608922" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=12334&isoform_id=12334_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ARL13B" 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/33598956,33598958,50949423,63101662,74355660,74355662,115503786,119600303,119600304,119600305,119600306,119600307,194384746,194387774,292658834,292658837,440575743,578807142,767925991,767925993,767925999,1008806540,1034631701,2217342478,2287254649,2462587932,2462587934,2462587936,2462587938,2462587940,2462587942" 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/Q3SXY8" 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=200894" 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=ENSG00000169379;t=ENST00000394222" 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=ARL13B" 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=ARL13B" 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+200894" 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/ARL13B" 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:200894" 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/200894" 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=chr3&hgg_gene=ENST00000394222.8&hgg_start=93980155&hgg_end=94055678&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25419" 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=608922[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=608922[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/ENSG00000169379" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ARL13B" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ARL13B" 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=ARL13B" 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=ARL13B&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/PA134975272" 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:25419" 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:1915396" 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/ARL13B#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:1915396" 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/200894/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=200894" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00021349;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-021217-3" 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://reactome.org/content/query?q=ARL13B&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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608922
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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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ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ARL2-LIKE PROTEIN 1; ARL2L1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ARL13B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ARL13B</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/3/482?start=-3&limit=10&highlight=482">3q11.1-q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:93980155-94055678&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'})">3:93,980,155-94,055,678</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/3/482?start=-3&limit=10&highlight=482">
|
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3q11.1-q11.2
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Joubert syndrome 8
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/612291"> 612291 </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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608922" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608922" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<p>The ARL13B gene encodes a member of the ADP-ribosylation factor-like (ARL) family of small GTPases of the RAS superfamily. ARL13B is required for proper cilia formation (summary by <a href="#7" class="mim-tip-reference" title="Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T. <strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong> Europ. J. Hum. Genet. 23: 621-627, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25138100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25138100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25138100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25138100">Thomas et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25138100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the process of positional cloning of the gene responsible for Bardet-Biedl syndrome type 3 (BBS3; see <a href="/entry/209900">209900</a>), which has been mapped to 3p12-q13 by linkage analysis, <a href="#3" class="mim-tip-reference" title="Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., Green, J. S., Lewis, R. A., van Haelst, M. M., Parfrey, P. S., Baillie, D. L., Beales, P. L., Katsanis, N., Davidson, W. S., Leroux, M. R. <strong>Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.</strong> Nature Genet. 36: 989-993, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314642</a>] [<a href="https://doi.org/10.1038/ng1414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15314642">Fan et al. (2004)</a> identified a gene with a sequence closely related to that of ADP-ribosylation factor-like-2 (ARL2; <a href="/entry/601175">601175</a>). They called it ARL2-like protein-1 (ARL2L1). <a href="#3" class="mim-tip-reference" title="Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., Green, J. S., Lewis, R. A., van Haelst, M. M., Parfrey, P. S., Baillie, D. L., Beales, P. L., Katsanis, N., Davidson, W. S., Leroux, M. R. <strong>Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.</strong> Nature Genet. 36: 989-993, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314642</a>] [<a href="https://doi.org/10.1038/ng1414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15314642">Fan et al. (2004)</a> determined that the C. elegans ARL2L1 ortholog is expressed in ciliated cells. They found no mutations in ARL2L1 in families with BBS3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15314642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In mouse tissues, <a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> found that Arl13b protein was expressed in cilia of all organs examined, including developing cerebellum, distal renal collecting ducts, and the retinal photoreceptor cilia layer connecting the inner and outer segments. About 40% of cilia-like structures in cerebellum showed ARL13B expression at embryonic day 16, compared with 1% of cells by postnatal day 21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Humbert, M. C., Weihbrecht, K., Searby, C. C., Li, Y., Pope, R. M., Sheffield, V. C., Seo, S. <strong>ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.</strong> Proc. Nat. Acad. Sci. 109: 19691-19696, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23150559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23150559</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23150559[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1210916109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23150559">Humbert et al. (2012)</a> identified ARL13B as part of a protein network required for targeting of the phospholipid phosphatase INPP5E (<a href="/entry/613037">613037</a>) to cilia. Other proteins in the network included the phosphodiesterase PDE6D (<a href="/entry/602676">602676</a>) and the centriolar protein CEP164 (<a href="/entry/614848">614848</a>). PDE6D bound the prenylated form of INPP5E, and the GTP-bound form of ARL13B interacted with an adjacent region of INPP5E. Overexpression of ARL13B promoted release of INPP5E from PDE6D. Knockdown of CEP164 or ARL13B reduced or eliminated ciliogenesis in human RPE1 cells, whereas knockdown of PDE6D had little effect on ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23150559" 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 human embryonic brain tissue, <a href="#7" class="mim-tip-reference" title="Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T. <strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong> Europ. J. Hum. Genet. 23: 621-627, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25138100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25138100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25138100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25138100">Thomas et al. (2015)</a> found expression of the ALR13B gene in the myelencephalon, the mesencephalon, the metencephalon, the ventricular layer of the diencephalon, the tegmentum of the pons, the cerebellar rhombic lips, and within primary cilia of the ventromedial hypothalamic neurons. ALR13B was also expressed in dorsal root ganglia, the vestibular ganglion, and within the neuronal epithelium surrounding the otic vesicle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25138100" 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="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> found that the ARL13B gene comprises 10 coding exons extending over approximately 70 kb of genomic sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" 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="Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., Green, J. S., Lewis, R. A., van Haelst, M. M., Parfrey, P. S., Baillie, D. L., Beales, P. L., Katsanis, N., Davidson, W. S., Leroux, M. R. <strong>Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.</strong> Nature Genet. 36: 989-993, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314642</a>] [<a href="https://doi.org/10.1038/ng1414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15314642">Fan et al. (2004)</a> found the ARL13B gene within the BBS3 critical interval on 3p12-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15314642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> found the ARL13B gene within chromosome 3p12.3-q12.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" 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>Within an approximately 110-cM interval on chromosome 3p12.3-q12.3, <a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> identified the ARL13B gene and detected 3 mutations causing Joubert syndrome (JBTS8; <a href="/entry/612291">612291</a>). In a consanguineous Pakistani family a missense mutation in the GTP-binding domain was found to segregate with the phenotype (<a href="#0001">608922.0001</a>). The affected member of a nonconsanguineous United States family was compound heterozygous for 2 additional mutations (<a href="#0002">608922.0002</a>, <a href="#0003">608922.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Humbert, M. C., Weihbrecht, K., Searby, C. C., Li, Y., Pope, R. M., Sheffield, V. C., Seo, S. <strong>ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.</strong> Proc. Nat. Acad. Sci. 109: 19691-19696, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23150559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23150559</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23150559[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1210916109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23150559">Humbert et al. (2012)</a> found that 2 missense mutations in ARL13B linked to Joubert syndrome, R79Q (<a href="#0001">608922.0001</a>) and R200C (<a href="#0003">608922.0003</a>), disrupted the interaction between ARL13B and INPP5E, resulting in failure to target INPP5E to cilia and failure of ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23150559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy, born of consanguineous Tunisian parents, with JBTS8, <a href="#7" class="mim-tip-reference" title="Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T. <strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong> Europ. J. Hum. Genet. 23: 621-627, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25138100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25138100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25138100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25138100">Thomas et al. (2015)</a> identified a homozygous missense mutation in the ARL13B gene (Y86C; <a href="#0004">608922.0004</a>). The mutation was found by a combination of homozygosity mapping and candidate gene sequencing. Expression of the mutation in arl13b-null zebrafish and mouse embryonic fibroblasts null for Arl13b showed only partial rescue of the null phenotype, consistent with a hypomorphic allele. <a href="#7" class="mim-tip-reference" title="Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T. <strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong> Europ. J. Hum. Genet. 23: 621-627, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25138100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25138100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25138100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25138100">Thomas et al. (2015)</a> found expression of the ARL13B gene within cilia in ventromedial hypothalamic neurons, and noted that the patient also had obesity. The patient had previously been reported as patient 3 by <a href="#5" class="mim-tip-reference" title="Romano, S., Boddaert, N., Desguerre, I., Hubert, L., Salomon, R., Seidenwurm, D., Bahi-Buisson, N., Nabbout, R., Sonigo, P., Lyonnet, S., Brunelle, F., Munnich, A., de Lonlay, P. <strong>Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.</strong> Neuropediatrics 37: 42-45, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16541367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16541367</a>] [<a href="https://doi.org/10.1055/s-2006-923838" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16541367">Romano et al. 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<p><a href="#2" class="mim-tip-reference" title="Caspary, T., Larkins, C. E., Anderson, K. V. <strong>The graded response to Sonic hedgehog depends on cilia architecture.</strong> Dev. Cell 12: 767-778, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488627</a>] [<a href="https://doi.org/10.1016/j.devcel.2007.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17488627">Caspary et al. (2007)</a> described the lethal mouse mutant 'hennin' (hnn), an N-ethyl-N-nitrosourea (ENU)-induced mutation in which the ventrolateral domain of motor neuron progenitors is expanded at the expense of both the most ventral and the most dorsal neural cell types. hnn mutant cilia are short with a specific defect in the structure of the ciliary axoneme, and the hnn neural tube shows an Shh (<a href="/entry/600725">600725</a>)-independent expansion of the domain of motor neuron progenitors. Limbs and eyes are also affected. <a href="#2" class="mim-tip-reference" title="Caspary, T., Larkins, C. E., Anderson, K. V. <strong>The graded response to Sonic hedgehog depends on cilia architecture.</strong> Dev. Cell 12: 767-778, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488627</a>] [<a href="https://doi.org/10.1016/j.devcel.2007.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17488627">Caspary et al. (2007)</a> identified a T-to-G transversion in the splice acceptor site of exon 2 of Arl13b as responsible for the hnn phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17488627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The 'scorpion' (sco) mutation of zebrafish, which results from inactivation of the arl13b gene, displays renal cysts and curved tail, both tied to impaired cilia function (<a href="#6" class="mim-tip-reference" title="Sun, Z., Amsterdam, A., Pazour, G. J., Cole, D. G., Miller, M. S., Hopkins, N. <strong>A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.</strong> Development 131: 4085-4093, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15269167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15269167</a>] [<a href="https://doi.org/10.1242/dev.01240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15269167">Sun et al., 2004</a>). <a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> found that human wildtype, but not mutated, ARL13B rescued the zebrafish scorpion mutant phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18674751+15269167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608922[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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<p>In a consanguineous Pakistani family with Joubert syndrome (JBTS8; <a href="/entry/612291">612291</a>), <a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> identified a G-to-A transition at nucleotide 236 in exon 3 of the ARL13B gene, resulting in an arg-to-gln substitution at codon 79 (R79Q), in homozygosity in affected members. The R79Q mutation occurs within the highly conserved GTP-binding domain and interferes with GTP binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a nonconsanguineous American family with 1 affected female displaying classical Joubert syndrome (JBTS8; <a href="/entry/612291">612291</a>), <a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> identified compound heterozygosity for mutations in the ARL13B gene: a G-to-A transition at nucleotide 246 in exon 3, resulting in a stop codon substitution for tryptophan at codon 82 (W82X), and a missense mutation (<a href="#0003">608922.0003</a>). The W82X mutation was inherited from patient's mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" 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> rs121912608 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912608;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/rs121912608?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=rs121912608" 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=rs121912608" 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=RCV000002070 OR RCV003330381" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002070, RCV003330381" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002070...</a>
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<p>In a family with 1 affected female displaying molar tooth sign and other symptoms of Joubert syndrome (JBTS8; <a href="/entry/612291">612291</a>), <a href="#1" class="mim-tip-reference" title="Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others. <strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong> Am. J. Hum. Genet. 83: 170-179, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18674751">Cantagrel et al. (2008)</a> found that the paternal allele carried a C-to-T transition at nucleotide 598 in exon 5 of the ARL13B gene, resulting in an arg-to-cys substitution at codon 200 (R200C). This mutation occurs in the coiled-coil domain. A premature termination mutation in ARL13B was found on the maternal allele (W82X; <a href="#0002">608922.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18674751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 JOUBERT SYNDROME 8</strong>
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ARL13B, TYR86CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863225430 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225430;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=rs863225430" 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=rs863225430" 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=RCV000202353 OR RCV002515490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202353, RCV002515490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202353...</a>
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<p>In a boy, born of consanguineous Tunisian parents, with Joubert syndrome-8 (JBTS8; <a href="/entry/612291">612291</a>), <a href="#7" class="mim-tip-reference" title="Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T. <strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong> Europ. J. Hum. Genet. 23: 621-627, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25138100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25138100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25138100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25138100">Thomas et al. (2015)</a> identified a homozygous c.257A-G transition (c.257A-G, NM_182896.2) in the ARL13B gene, resulting in a tyr86-to-cys (Y86C) substitution at a highly conserved residue. The mutation, which was found by a combination of homozygosity mapping and candidate gene sequencing, was not found in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases, or in 240 Tunisian control chromosomes. Parental DNA was not available for segregation analysis. Expression of the mutation into arl13b-null zebrafish was only partially able to rescue the phenotype: the curved body was still present, but kidney cysts were not found in 30% of injected mutant zebrafish. Transfection of the mutation into mouse embryonic fibroblasts null for Arl13b also showed only a partial rescue of the null phenotype. The findings were consistent with a hypomorphic allele. In addition to classic features of Joubert syndrome, the patient also had obesity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25138100" 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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Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others.
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<strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong>
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Am. J. Hum. Genet. 83: 170-179, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18674751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18674751[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=18674751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.06.023" target="_blank">Full Text</a>]
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Caspary, T., Larkins, C. E., Anderson, K. V.
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<strong>The graded response to Sonic hedgehog depends on cilia architecture.</strong>
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Dev. Cell 12: 767-778, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17488627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2007.03.004" target="_blank">Full Text</a>]
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<a id="Fan2004" class="mim-anchor"></a>
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Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., Green, J. S., Lewis, R. A., van Haelst, M. M., Parfrey, P. S., Baillie, D. L., Beales, P. L., Katsanis, N., Davidson, W. S., Leroux, M. R.
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<strong>Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.</strong>
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Nature Genet. 36: 989-993, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15314642" 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/ng1414" target="_blank">Full Text</a>]
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Humbert, M. C., Weihbrecht, K., Searby, C. C., Li, Y., Pope, R. M., Sheffield, V. C., Seo, S.
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<strong>ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.</strong>
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Proc. Nat. Acad. Sci. 109: 19691-19696, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23150559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23150559</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23150559[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=23150559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1210916109" target="_blank">Full Text</a>]
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Romano, S., Boddaert, N., Desguerre, I., Hubert, L., Salomon, R., Seidenwurm, D., Bahi-Buisson, N., Nabbout, R., Sonigo, P., Lyonnet, S., Brunelle, F., Munnich, A., de Lonlay, P.
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<strong>Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.</strong>
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Neuropediatrics 37: 42-45, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16541367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16541367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16541367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sun, Z., Amsterdam, A., Pazour, G. J., Cole, D. G., Miller, M. S., Hopkins, N.
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<strong>A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.</strong>
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Development 131: 4085-4093, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15269167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15269167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15269167" 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/10.1242/dev.01240" target="_blank">Full Text</a>]
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Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T.
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<strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong>
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Europ. J. Hum. Genet. 23: 621-627, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25138100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25138100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25138100[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=25138100" 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/ejhg.2014.156" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/23/2015
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Patricia A. Hartz - updated : 11/20/2013<br>Ada Hamosh - updated : 9/8/2008
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Victor A. McKusick : 9/14/2004
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 12/03/2020
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 11/06/2017<br>alopez : 10/04/2016<br>carol : 11/24/2015<br>ckniffin : 11/23/2015<br>mcolton : 2/6/2015<br>mgross : 11/20/2013<br>mgross : 11/20/2013<br>mcolton : 11/20/2013<br>terry : 10/8/2008<br>alopez : 9/24/2008<br>alopez : 9/15/2008<br>terry : 9/8/2008<br>alopez : 12/16/2005<br>alopez : 9/14/2004
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608922
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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ARL2-LIKE PROTEIN 1; ARL2L1
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ARL13B</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: 3q11.1-q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:93,980,155-94,055,678 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<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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<td rowspan="1">
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<span class="mim-font">
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3q11.1-q11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 8
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</span>
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</td>
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<td>
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<span class="mim-font">
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612291
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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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</table>
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<br />
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ARL13B gene encodes a member of the ADP-ribosylation factor-like (ARL) family of small GTPases of the RAS superfamily. ARL13B is required for proper cilia formation (summary by Thomas et al., 2015). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the process of positional cloning of the gene responsible for Bardet-Biedl syndrome type 3 (BBS3; see 209900), which has been mapped to 3p12-q13 by linkage analysis, Fan et al. (2004) identified a gene with a sequence closely related to that of ADP-ribosylation factor-like-2 (ARL2; 601175). They called it ARL2-like protein-1 (ARL2L1). Fan et al. (2004) determined that the C. elegans ARL2L1 ortholog is expressed in ciliated cells. They found no mutations in ARL2L1 in families with BBS3. </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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<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>In mouse tissues, Cantagrel et al. (2008) found that Arl13b protein was expressed in cilia of all organs examined, including developing cerebellum, distal renal collecting ducts, and the retinal photoreceptor cilia layer connecting the inner and outer segments. About 40% of cilia-like structures in cerebellum showed ARL13B expression at embryonic day 16, compared with 1% of cells by postnatal day 21. </p><p>Humbert et al. (2012) identified ARL13B as part of a protein network required for targeting of the phospholipid phosphatase INPP5E (613037) to cilia. Other proteins in the network included the phosphodiesterase PDE6D (602676) and the centriolar protein CEP164 (614848). PDE6D bound the prenylated form of INPP5E, and the GTP-bound form of ARL13B interacted with an adjacent region of INPP5E. Overexpression of ARL13B promoted release of INPP5E from PDE6D. Knockdown of CEP164 or ARL13B reduced or eliminated ciliogenesis in human RPE1 cells, whereas knockdown of PDE6D had little effect on ciliogenesis. </p><p>In human embryonic brain tissue, Thomas et al. (2015) found expression of the ALR13B gene in the myelencephalon, the mesencephalon, the metencephalon, the ventricular layer of the diencephalon, the tegmentum of the pons, the cerebellar rhombic lips, and within primary cilia of the ventromedial hypothalamic neurons. ALR13B was also expressed in dorsal root ganglia, the vestibular ganglion, and within the neuronal epithelium surrounding the otic vesicle. </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>Cantagrel et al. (2008) found that the ARL13B gene comprises 10 coding exons extending over approximately 70 kb of genomic sequence. </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>Fan et al. (2004) found the ARL13B gene within the BBS3 critical interval on 3p12-q13. </p><p>Cantagrel et al. (2008) found the ARL13B gene within chromosome 3p12.3-q12.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Within an approximately 110-cM interval on chromosome 3p12.3-q12.3, Cantagrel et al. (2008) identified the ARL13B gene and detected 3 mutations causing Joubert syndrome (JBTS8; 612291). In a consanguineous Pakistani family a missense mutation in the GTP-binding domain was found to segregate with the phenotype (608922.0001). The affected member of a nonconsanguineous United States family was compound heterozygous for 2 additional mutations (608922.0002, 608922.0003). </p><p>Humbert et al. (2012) found that 2 missense mutations in ARL13B linked to Joubert syndrome, R79Q (608922.0001) and R200C (608922.0003), disrupted the interaction between ARL13B and INPP5E, resulting in failure to target INPP5E to cilia and failure of ciliogenesis. </p><p>In a boy, born of consanguineous Tunisian parents, with JBTS8, Thomas et al. (2015) identified a homozygous missense mutation in the ARL13B gene (Y86C; 608922.0004). The mutation was found by a combination of homozygosity mapping and candidate gene sequencing. Expression of the mutation in arl13b-null zebrafish and mouse embryonic fibroblasts null for Arl13b showed only partial rescue of the null phenotype, consistent with a hypomorphic allele. Thomas et al. (2015) found expression of the ARL13B gene within cilia in ventromedial hypothalamic neurons, and noted that the patient also had obesity. The patient had previously been reported as patient 3 by Romano et al. (2006). </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>Caspary et al. (2007) described the lethal mouse mutant 'hennin' (hnn), an N-ethyl-N-nitrosourea (ENU)-induced mutation in which the ventrolateral domain of motor neuron progenitors is expanded at the expense of both the most ventral and the most dorsal neural cell types. hnn mutant cilia are short with a specific defect in the structure of the ciliary axoneme, and the hnn neural tube shows an Shh (600725)-independent expansion of the domain of motor neuron progenitors. Limbs and eyes are also affected. Caspary et al. (2007) identified a T-to-G transversion in the splice acceptor site of exon 2 of Arl13b as responsible for the hnn phenotype. </p><p>The 'scorpion' (sco) mutation of zebrafish, which results from inactivation of the arl13b gene, displays renal cysts and curved tail, both tied to impaired cilia function (Sun et al., 2004). Cantagrel et al. (2008) found that human wildtype, but not mutated, ARL13B rescued the zebrafish scorpion mutant phenotype. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 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 JOUBERT SYNDROME 8</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARL13B, ARG79GLN
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<br />
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SNP: rs121912606,
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gnomAD: rs121912606,
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ClinVar: RCV000002068
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a consanguineous Pakistani family with Joubert syndrome (JBTS8; 612291), Cantagrel et al. (2008) identified a G-to-A transition at nucleotide 236 in exon 3 of the ARL13B gene, resulting in an arg-to-gln substitution at codon 79 (R79Q), in homozygosity in affected members. The R79Q mutation occurs within the highly conserved GTP-binding domain and interferes with GTP binding. </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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<h4>
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<span class="mim-font">
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<strong>.0002 JOUBERT SYNDROME 8</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARL13B, TRP82TER
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<br />
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SNP: rs121912607,
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ClinVar: RCV000002069
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a nonconsanguineous American family with 1 affected female displaying classical Joubert syndrome (JBTS8; 612291), Cantagrel et al. (2008) identified compound heterozygosity for mutations in the ARL13B gene: a G-to-A transition at nucleotide 246 in exon 3, resulting in a stop codon substitution for tryptophan at codon 82 (W82X), and a missense mutation (608922.0003). The W82X mutation was inherited from patient's mother. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 JOUBERT SYNDROME 8</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARL13B, ARG200CYS
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<br />
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SNP: rs121912608,
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gnomAD: rs121912608,
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ClinVar: RCV000002070, RCV003330381
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with 1 affected female displaying molar tooth sign and other symptoms of Joubert syndrome (JBTS8; 612291), Cantagrel et al. (2008) found that the paternal allele carried a C-to-T transition at nucleotide 598 in exon 5 of the ARL13B gene, resulting in an arg-to-cys substitution at codon 200 (R200C). This mutation occurs in the coiled-coil domain. A premature termination mutation in ARL13B was found on the maternal allele (W82X; 608922.0002). </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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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 JOUBERT SYNDROME 8</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARL13B, TYR86CYS
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<br />
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SNP: rs863225430,
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ClinVar: RCV000202353, RCV002515490
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a boy, born of consanguineous Tunisian parents, with Joubert syndrome-8 (JBTS8; 612291), Thomas et al. (2015) identified a homozygous c.257A-G transition (c.257A-G, NM_182896.2) in the ARL13B gene, resulting in a tyr86-to-cys (Y86C) substitution at a highly conserved residue. The mutation, which was found by a combination of homozygosity mapping and candidate gene sequencing, was not found in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases, or in 240 Tunisian control chromosomes. Parental DNA was not available for segregation analysis. Expression of the mutation into arl13b-null zebrafish was only partially able to rescue the phenotype: the curved body was still present, but kidney cysts were not found in 30% of injected mutant zebrafish. Transfection of the mutation into mouse embryonic fibroblasts null for Arl13b also showed only a partial rescue of the null phenotype. The findings were consistent with a hypomorphic allele. In addition to classic features of Joubert syndrome, the patient also had obesity. </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>REFERENCES</strong>
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Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attie-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., and 14 others.
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<strong>Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.</strong>
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Am. J. Hum. Genet. 83: 170-179, 2008.
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[PubMed: 18674751]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.06.023]
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<li>
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<p class="mim-text-font">
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Caspary, T., Larkins, C. E., Anderson, K. V.
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<strong>The graded response to Sonic hedgehog depends on cilia architecture.</strong>
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Dev. Cell 12: 767-778, 2007.
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[PubMed: 17488627]
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[Full Text: https://doi.org/10.1016/j.devcel.2007.03.004]
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</li>
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<li>
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<p class="mim-text-font">
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Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., Green, J. S., Lewis, R. A., van Haelst, M. M., Parfrey, P. S., Baillie, D. L., Beales, P. L., Katsanis, N., Davidson, W. S., Leroux, M. R.
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<strong>Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.</strong>
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Nature Genet. 36: 989-993, 2004.
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[PubMed: 15314642]
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[Full Text: https://doi.org/10.1038/ng1414]
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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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Humbert, M. C., Weihbrecht, K., Searby, C. C., Li, Y., Pope, R. M., Sheffield, V. C., Seo, S.
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<strong>ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.</strong>
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Proc. Nat. Acad. Sci. 109: 19691-19696, 2012.
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[PubMed: 23150559]
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[Full Text: https://doi.org/10.1073/pnas.1210916109]
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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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Romano, S., Boddaert, N., Desguerre, I., Hubert, L., Salomon, R., Seidenwurm, D., Bahi-Buisson, N., Nabbout, R., Sonigo, P., Lyonnet, S., Brunelle, F., Munnich, A., de Lonlay, P.
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<strong>Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.</strong>
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Neuropediatrics 37: 42-45, 2006.
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[PubMed: 16541367]
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[Full Text: https://doi.org/10.1055/s-2006-923838]
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</li>
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<li>
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<p class="mim-text-font">
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Sun, Z., Amsterdam, A., Pazour, G. J., Cole, D. G., Miller, M. S., Hopkins, N.
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<strong>A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.</strong>
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Development 131: 4085-4093, 2004.
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[PubMed: 15269167]
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[Full Text: https://doi.org/10.1242/dev.01240]
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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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Thomas, S., Cantagrel, V., Mariani, L., Serre, V., Lee, J.-E., Elkhartoufi, N., de Lonlay, P., Desguerre, I., Munnich, A., Boddaert, N., Lyonnet, S., Vekemans, M., Lisgo, S. N., Caspary, T., Gleeson, J., Attie-Bitach, T.
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<strong>Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.</strong>
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Europ. J. Hum. Genet. 23: 621-627, 2015.
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[PubMed: 25138100]
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[Full Text: https://doi.org/10.1038/ejhg.2014.156]
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Cassandra L. Kniffin - updated : 11/23/2015<br>Patricia A. Hartz - updated : 11/20/2013<br>Ada Hamosh - updated : 9/8/2008
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Victor A. McKusick : 9/14/2004
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