3141 lines
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Entry
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- *172480 - PHOSPHOSERINE PHOSPHATASE; PSPH
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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">*172480</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<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/172480">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<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=ENSG00000146733;t=ENST00000275605" 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=5723" 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=172480" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="panel-title">
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<span class="small">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000146733;t=ENST00000275605" 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_001370503,NM_001370504,NM_001370505,NM_001370506,NM_001370507,NM_001370508,NM_001370509,NM_001370510,NM_001370511,NM_001370512,NM_001370513,NM_001370514,NM_001370515,NM_001370516,NM_001370517,NM_001370518,NM_001370519,NM_001370520,NM_001370521,NM_001370522,NM_004577,XM_006715761,XM_017012467,XM_017012468,XM_017012469,XM_047420644,XM_047420645,XM_047420646,XM_047420647,XM_047420648,XM_047420649,XM_047420650,XM_047420651,XM_047420652,XM_047420653,XM_047420654" 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_004577" 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=172480" 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=01406&isoform_id=01406_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/PSPH" 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/31873380,39793962,46249388,62898748,62906870,119628373,119628374,119628375,119628376,189054827,578813586,1034656382,1034656384,1034656386,1635577219,1635577221,1635577223,1635577225,1635577227,1635577229,1635577231,1635577233,1635577235,1635577237,1635577239,1635577241,1635577243,1635577245,1635577247,1635577249,1635577251,1635577253,1635577255,1635577257,2217367937,2217367939,2217367941,2217367943,2217367945,2217367948,2217367950,2217367954,2217367956,2217367958,2217367961,2462615437,2462615439,2462615441,2462615443,2462615445,2462615447,2462615449,2462615451,2462615453,2462615455,2462615457,2462615459,2462615461" 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/P78330" 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=5723" 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=ENSG00000146733;t=ENST00000275605" 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=PSPH" 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=PSPH" 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+5723" 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/PSPH" 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:5723" 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/5723" 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=chr7&hgg_gene=ENST00000275605.8&hgg_start=56011064&hgg_end=56051444&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9577" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9577" 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=172480[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=172480[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/ENSG00000146733" 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=PSPH" 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=PSPH" 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=PSPH" 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=PSPH&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/PA33928" 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:9577" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0023129.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97788" 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/PSPH#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:97788" 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/5723/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=5723" 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=WBGene00013379;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-050809-127" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5723" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PSPH&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124432005<br />
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">ICD+</a>
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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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172480
|
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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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PHOSPHOSERINE PHOSPHATASE; PSPH
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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>
|
|
<span class="mim-font">
|
|
PSP
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PSPH" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PSPH</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>
|
|
Cytogenetic location: <a href="/geneMap/7/280?start=-3&limit=10&highlight=280">7p11.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:56011064-56051444&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'})">7:56,011,064-56,051,444</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
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>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/280?start=-3&limit=10&highlight=280">
|
|
7p11.2
|
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</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Phosphoserine phosphatase deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614023"> 614023 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
</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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/172480" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/172480" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
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<p>The PSPH gene encodes phosphoserine phosphatase (<a href="https://enzyme.expasy.org/EC/3.1.3.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.1.3.3</a>), which catalyzes the final and irreversible step of L-serine synthesis (summary by <a href="#11" class="mim-tip-reference" title="Vincent, J. B., Jamil, T., Rafiq, M. A., Anwar, Z., Ayaz, M., Hameed, A., Nasr, T., Naeem, F., Khattak, N. A., Carter, M., Ahmed, I., John, P., Wiame, E., Andrade, D. M., Schaftingen, E. V., Mir, A., Ayub, M. <strong>Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. (Letter)</strong> Clin. Genet. 87: 296-298, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25080166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25080166</a>] [<a href="https://doi.org/10.1111/cge.12445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25080166">Vincent et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25080166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By starch gel electrophoresis, <a href="#7" class="mim-tip-reference" title="Moro-Furlani, A. M., Turner, V. S., Hopkinson, D. A. <strong>Genetical and biochemical studies on human phosphoserine phosphatase.</strong> Ann. Hum. Genet. 43: 323-333, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249179</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1980.tb01566.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6249179">Moro-Furlani et al. (1980)</a> detected multiple isozymes of PSP in a wide range of tissues. They suggested that rare electrophoretic variants were probably due to allelic variation at the structural locus, and that common variation existed due to secondary modification. The 3-banded isozyme pattern seen in heterozygotes (PSP2-1 and PSP3-1) suggested that PSP is dimeric. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6249179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Collet, J.-F., Gerin, I., Rider, M. H., Veiga-da-Cunha, M., Van Shaftingen, E. <strong>Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate.</strong> FEBS Lett. 408: 281-284, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9188776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9188776</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)00438-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9188776">Collet et al. (1997)</a> cloned the human PSP cDNA, which encodes a 225-amino acid polypeptide. The cDNA was expressed and yielded a 25-kD protein with the expected phosphatase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9188776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By study of somatic cell hybrids, <a href="#6" class="mim-tip-reference" title="Koch, G. A., Eddy, R. L., Haley, L. L., Byers, M. G., McAvoy, M., Shows, T. B. <strong>Assignment of the human phosphoserine gene (PSP) to the pter-q22 region of chromosome 7.</strong> Cytogenet. Cell Genet. 35: 67-69, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6297854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6297854</a>] [<a href="https://doi.org/10.1159/000131839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6297854">Koch et al. (1983)</a> assigned the structural gene for PSPH to chromosome 7 in the region pter-q22. By study of patients with structural abnormalities of 7p, <a href="#8" class="mim-tip-reference" title="Novelli, G., Dallapiccola, B. <strong>Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.</strong> Ann. Genet. 31: 195-196, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2851960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2851960</a>]" pmid="2851960">Novelli and Dallapiccola (1988)</a> refined the assignment of PSPH to 7p15.2-p15.1. The activity of PSP was increased in a patient with an unbalanced translocation associated with trisomy of the segment 7pter-p15 (<a href="#2" class="mim-tip-reference" title="Caiulo, A., Bardoni, B., Camerino, G., Guioli, S., Minelli, A., Piantanida, M., Crosato, F., Dalla Fior, T., Maraschio, P. <strong>Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl.</strong> Hum. Genet. 84: 51-54, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2558067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2558067</a>] [<a href="https://doi.org/10.1007/BF00210670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2558067">Caiulo et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2851960+6297854+2558067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Fryns, J.-P., Collet, J.-F., Alliet, P., Van Schaftingen, E. <strong>Phosphoserine phosphatase deficiency in a patient with Williams syndrome.</strong> J. Med. Genet. 34: 594-596, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222972</a>] [<a href="https://doi.org/10.1136/jmg.34.7.594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222972">Jaeken et al. (1997)</a> noted that the assignments of the PSPH gene to 7p by <a href="#6" class="mim-tip-reference" title="Koch, G. A., Eddy, R. L., Haley, L. L., Byers, M. G., McAvoy, M., Shows, T. B. <strong>Assignment of the human phosphoserine gene (PSP) to the pter-q22 region of chromosome 7.</strong> Cytogenet. Cell Genet. 35: 67-69, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6297854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6297854</a>] [<a href="https://doi.org/10.1159/000131839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6297854">Koch et al. (1983)</a> and <a href="#8" class="mim-tip-reference" title="Novelli, G., Dallapiccola, B. <strong>Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.</strong> Ann. Genet. 31: 195-196, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2851960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2851960</a>]" pmid="2851960">Novelli and Dallapiccola (1988)</a> were based on gene dosage analysis. By genomic sequence analysis, <a href="#10" class="mim-tip-reference" title="Veiga-da-Cunha, M., Collet, J.-F., Prieur, B., Jaeken, J., Peeraer, Y., Rabbijns, A., van Schaftingen, E. <strong>Mutations responsible for 3-phosphoserine phosphatase deficiency.</strong> Europ. J. Hum. Genet. 12: 163-166, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673469</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673469">Veiga-da-Cunha et al. (2004)</a> found that the PSPH gene is located on 7p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2851960+14673469+6297854+9222972" 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><strong><em>Phosphoserine Phosphatase Deficiency</em></strong></p><p>
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In a patient with phosphoserine phosphatase deficiency (PSPHD; <a href="/entry/614023">614023</a>), who also had Williams-Beuren syndrome (WBS; <a href="/entry/194050">194050</a>) and was originally reported by <a href="#5" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Fryns, J.-P., Collet, J.-F., Alliet, P., Van Schaftingen, E. <strong>Phosphoserine phosphatase deficiency in a patient with Williams syndrome.</strong> J. Med. Genet. 34: 594-596, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222972</a>] [<a href="https://doi.org/10.1136/jmg.34.7.594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222972">Jaeken et al. (1997)</a>, <a href="#10" class="mim-tip-reference" title="Veiga-da-Cunha, M., Collet, J.-F., Prieur, B., Jaeken, J., Peeraer, Y., Rabbijns, A., van Schaftingen, E. <strong>Mutations responsible for 3-phosphoserine phosphatase deficiency.</strong> Europ. J. Hum. Genet. 12: 163-166, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673469</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673469">Veiga-da-Cunha et al. (2004)</a> identified compound heterozygosity for 2 mutations in the PSPH gene (<a href="#0001">172480.0001</a>; <a href="#0002">172480.0002</a>). They noted that the PSPH gene is separated from the elastin gene (ELN; <a href="/entry/130160">130160</a>), one of several genes implicated in WBS, by 16.5 Mb. The authors concluded that there was no link between the 2 disorders in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14673469+9222972" 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 affected members of a consanguineous Pakistani family with PSPHD, <a href="#11" class="mim-tip-reference" title="Vincent, J. B., Jamil, T., Rafiq, M. A., Anwar, Z., Ayaz, M., Hameed, A., Nasr, T., Naeem, F., Khattak, N. A., Carter, M., Ahmed, I., John, P., Wiame, E., Andrade, D. M., Schaftingen, E. V., Mir, A., Ayub, M. <strong>Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. (Letter)</strong> Clin. Genet. 87: 296-298, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25080166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25080166</a>] [<a href="https://doi.org/10.1111/cge.12445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25080166">Vincent et al. (2015)</a> identified a homozygous missense mutation in the PSPH gene (A35T; <a href="#0004">172480.0004</a>). The mutation, which was found by homozygosity mapping and Sanger sequencing of candidate genes, segregated with the disorder in the family. Enzymatic analysis showed that the mutant protein had approximately 10-fold lower activity than wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25080166" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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See <a href="#0003">172480.0003</a> for discussion of a possible association between variation in the PSPH gene and Neu-Laxova syndrome (see <a href="/entry/256520">256520</a>).</p>
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#4" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human PSPH is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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> rs104894035 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894035;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/rs104894035?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=rs104894035" 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=rs104894035" 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=RCV000014593 OR RCV004691721" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014593, RCV004691721" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014593...</a>
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<p>In a patient with phosphoserine phosphatase deficiency (PSPHD; <a href="/entry/614023">614023</a>) originally reported by <a href="#5" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Fryns, J.-P., Collet, J.-F., Alliet, P., Van Schaftingen, E. <strong>Phosphoserine phosphatase deficiency in a patient with Williams syndrome.</strong> J. Med. Genet. 34: 594-596, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222972</a>] [<a href="https://doi.org/10.1136/jmg.34.7.594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222972">Jaeken et al. (1997)</a>, <a href="#10" class="mim-tip-reference" title="Veiga-da-Cunha, M., Collet, J.-F., Prieur, B., Jaeken, J., Peeraer, Y., Rabbijns, A., van Schaftingen, E. <strong>Mutations responsible for 3-phosphoserine phosphatase deficiency.</strong> Europ. J. Hum. Genet. 12: 163-166, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673469</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673469">Veiga-da-Cunha et al. (2004)</a> identified compound heterozygosity for 2 mutations in the PSPH gene: a 94G-A transition resulting in an asp32-to-asn (D32N) substitution, and a 155T-C transition resulting in a met52-to-thr (M52T; <a href="#0002">172480.0002</a>) substitution. The D32N change occurs in a fairly well-conserved region of the protein, and the M52T change in an extremely well-conserved area. The patient's father and mother were heterozygous for the D32N and the M52T mutation, respectively, indicating autosomal recessive inheritance. In vitro expression studies showed that the D32N mutation reduced enzyme activity by 50%, and the M52T mutation virtually abolished enzyme activity. The changes were consistent with kinetic properties observed in the patient's fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14673469+9222972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 PHOSPHOSERINE PHOSPHATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894036 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894036;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=rs104894036" 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=rs104894036" 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=RCV000014594" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014594" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014594</a>
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<p>For discussion of the met52-to-thr (M52T) mutation in the PSPH gene that was found in compound heterozygous state in a patient with phosphoserine phosphatase deficiency (PSPHD; <a href="/entry/614023">614023</a>) by <a href="#10" class="mim-tip-reference" title="Veiga-da-Cunha, M., Collet, J.-F., Prieur, B., Jaeken, J., Peeraer, Y., Rabbijns, A., van Schaftingen, E. <strong>Mutations responsible for 3-phosphoserine phosphatase deficiency.</strong> Europ. J. Hum. Genet. 12: 163-166, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673469</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673469">Veiga-da-Cunha et al. (2004)</a>, see <a href="#0001">172480.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14673469" 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">rs587777773 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777773;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=rs587777773" 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=rs587777773" 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=RCV000144443" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144443" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144443</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to Neu-Laxova syndrome (see <a href="/entry/256520">256520</a>) has not been confirmed.</p><p>In the unaffected related parents and an unaffected sib of a fetus with Neu-Laxova syndrome (see <a href="/entry/256520">256520</a>), <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[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.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> identified a heterozygous 1-bp deletion (c.267delC) in the PSPH gene resulting in a frameshift and premature termination (Gly90AlsfsTer2) predicted to result in complete loss of function. The authors inferred from this that the fetus was homozygous for the mutation; no DNA was available from the fetus to test for homozygosity. The mutation was not present in the Exome Sequencing Project database; functional studies of the variant were not performed. The fetus had multiple congenital anomalies, including intrauterine growth retardation, microcephaly, low-set ears, flat nose, micrognathia, abnormal mouth, digital and limb deformities, rocker-bottom feet, ichthyosis, and widely spaced nipples. <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[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.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> noted that some features of the phenotype overlapped with, but were more severe than, those reported in PSPH deficiency, suggesting that the prenatal lethality of NLS2 represents the more severe end of a phenotypic spectrum. The findings emphasized the critical importance of serine availability in early embryonic and fetal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25152457" 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 PHOSPHOSERINE PHOSPHATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786204793 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204793;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=rs786204793" 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=rs786204793" 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=RCV000169687" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169687" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169687</a>
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<p>In affected members of a large consanguineous Pakistani family with phosphoserine phosphatase deficiency (PSPHD; <a href="/entry/614023">614023</a>), <a href="#11" class="mim-tip-reference" title="Vincent, J. B., Jamil, T., Rafiq, M. A., Anwar, Z., Ayaz, M., Hameed, A., Nasr, T., Naeem, F., Khattak, N. A., Carter, M., Ahmed, I., John, P., Wiame, E., Andrade, D. M., Schaftingen, E. V., Mir, A., Ayub, M. <strong>Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. (Letter)</strong> Clin. Genet. 87: 296-298, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25080166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25080166</a>] [<a href="https://doi.org/10.1111/cge.12445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25080166">Vincent et al. (2015)</a> identified a homozygous c.103G-A transition (c.103G-A, NM_004577.3) in the PSPH gene, resulting in an ala35-to-thr (A35T) substitution at a highly conserved residue in a small hydrophobic pocket near the catalytic site. The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family, and was not present in the dbSNP (build 138), 1000 Genomes Project, or Exome Variant Server databases, or in 250 Pakistani controls. Enzymatic analysis showed that the mutant protein had approximately 10-fold lower activity than wildtype, and plasma levels of serine and glycine were decreased in 2 patients tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25080166" 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="#Sparkes1983" class="mim-tip-reference" title="Sparkes, R. S., Mohandas, T., Sparkes, M. C. <strong>The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis.</strong> Cytogenet. Cell Genet. 35: 70-71, 1983.">Sparkes et al. (1983)</a>
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Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others.
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<strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong>
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Am. J. Hum. Genet. 95: 285-293, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[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=25152457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Caiulo, A., Bardoni, B., Camerino, G., Guioli, S., Minelli, A., Piantanida, M., Crosato, F., Dalla Fior, T., Maraschio, P.
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<strong>Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl.</strong>
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Hum. Genet. 84: 51-54, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2558067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2558067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2558067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00210670" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Collet1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Collet, J.-F., Gerin, I., Rider, M. H., Veiga-da-Cunha, M., Van Shaftingen, E.
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<strong>Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate.</strong>
|
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FEBS Lett. 408: 281-284, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9188776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9188776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9188776" 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/s0014-5793(97)00438-9" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Dickinson2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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/nature19356" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Jaeken1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Jaeken, J., Detheux, M., Fryns, J.-P., Collet, J.-F., Alliet, P., Van Schaftingen, E.
|
|
<strong>Phosphoserine phosphatase deficiency in a patient with Williams syndrome.</strong>
|
|
J. Med. Genet. 34: 594-596, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.34.7.594" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Koch1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koch, G. A., Eddy, R. L., Haley, L. L., Byers, M. G., McAvoy, M., Shows, T. B.
|
|
<strong>Assignment of the human phosphoserine gene (PSP) to the pter-q22 region of chromosome 7.</strong>
|
|
Cytogenet. Cell Genet. 35: 67-69, 1983.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6297854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6297854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6297854" 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/10.1159/000131839" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Moro-Furlani1980" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Moro-Furlani, A. M., Turner, V. S., Hopkinson, D. A.
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|
<strong>Genetical and biochemical studies on human phosphoserine phosphatase.</strong>
|
|
Ann. Hum. Genet. 43: 323-333, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6249179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1980.tb01566.x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Novelli1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Novelli, G., Dallapiccola, B.
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<strong>Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.</strong>
|
|
Ann. Genet. 31: 195-196, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2851960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2851960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2851960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Sparkes1983" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Sparkes, R. S., Mohandas, T., Sparkes, M. C.
|
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<strong>The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis.</strong>
|
|
Cytogenet. Cell Genet. 35: 70-71, 1983.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6297855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6297855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6297855" 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/10.1159/000131840" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Veiga-da-Cunha2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Veiga-da-Cunha, M., Collet, J.-F., Prieur, B., Jaeken, J., Peeraer, Y., Rabbijns, A., van Schaftingen, E.
|
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<strong>Mutations responsible for 3-phosphoserine phosphatase deficiency.</strong>
|
|
Europ. J. Hum. Genet. 12: 163-166, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14673469" 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/sj.ejhg.5201083" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Vincent2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vincent, J. B., Jamil, T., Rafiq, M. A., Anwar, Z., Ayaz, M., Hameed, A., Nasr, T., Naeem, F., Khattak, N. A., Carter, M., Ahmed, I., John, P., Wiame, E., Andrade, D. M., Schaftingen, E. V., Mir, A., Ayub, M.
|
|
<strong>Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. (Letter)</strong>
|
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Clin. Genet. 87: 296-298, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25080166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25080166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25080166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.12445" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/21/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Cassandra L. Kniffin - updated : 3/25/2015<br>Cassandra L. Kniffin - updated : 9/30/2014<br>Cassandra L. Kniffin - updated : 6/15/2004<br>Jennifer P. Macke - updated : 3/12/1999<br>Michael J. Wright - updated : 12/18/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/2/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/29/2018
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/22/2017<br>alopez : 02/21/2017<br>alopez : 10/10/2016<br>alopez : 03/30/2015<br>mcolton : 3/26/2015<br>ckniffin : 3/25/2015<br>carol : 10/2/2014<br>mcolton : 10/1/2014<br>ckniffin : 9/30/2014<br>carol : 6/3/2011<br>carol : 4/22/2011<br>carol : 6/15/2004<br>ckniffin : 6/15/2004<br>mgross : 7/2/1999<br>mgross : 3/15/1999<br>mgross : 3/12/1999<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>supermim : 3/16/1992<br>supermim : 4/27/1990<br>supermim : 3/20/1990<br>supermim : 1/18/1990<br>ddp : 10/27/1989<br>root : 11/11/1988
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 172480
|
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</span>
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</h3>
|
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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|
PHOSPHOSERINE PHOSPHATASE; PSPH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
|
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<p>
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<span class="mim-font">
|
|
<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>
|
|
<span class="mim-font">
|
|
PSP
|
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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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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: PSPH</em></strong>
|
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</span>
|
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</p>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 124432005;
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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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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 7p11.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 7:56,011,064-56,051,444 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
7p11.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Phosphoserine phosphatase deficiency
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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614023
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PSPH gene encodes phosphoserine phosphatase (EC 3.1.3.3), which catalyzes the final and irreversible step of L-serine synthesis (summary by Vincent 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>By starch gel electrophoresis, Moro-Furlani et al. (1980) detected multiple isozymes of PSP in a wide range of tissues. They suggested that rare electrophoretic variants were probably due to allelic variation at the structural locus, and that common variation existed due to secondary modification. The 3-banded isozyme pattern seen in heterozygotes (PSP2-1 and PSP3-1) suggested that PSP is dimeric. </p><p>Collet et al. (1997) cloned the human PSP cDNA, which encodes a 225-amino acid polypeptide. The cDNA was expressed and yielded a 25-kD protein with the expected phosphatase activity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By study of somatic cell hybrids, Koch et al. (1983) assigned the structural gene for PSPH to chromosome 7 in the region pter-q22. By study of patients with structural abnormalities of 7p, Novelli and Dallapiccola (1988) refined the assignment of PSPH to 7p15.2-p15.1. The activity of PSP was increased in a patient with an unbalanced translocation associated with trisomy of the segment 7pter-p15 (Caiulo et al., 1989). </p><p>Jaeken et al. (1997) noted that the assignments of the PSPH gene to 7p by Koch et al. (1983) and Novelli and Dallapiccola (1988) were based on gene dosage analysis. By genomic sequence analysis, Veiga-da-Cunha et al. (2004) found that the PSPH gene is located on 7p11. </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><strong><em>Phosphoserine Phosphatase Deficiency</em></strong></p><p>
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In a patient with phosphoserine phosphatase deficiency (PSPHD; 614023), who also had Williams-Beuren syndrome (WBS; 194050) and was originally reported by Jaeken et al. (1997), Veiga-da-Cunha et al. (2004) identified compound heterozygosity for 2 mutations in the PSPH gene (172480.0001; 172480.0002). They noted that the PSPH gene is separated from the elastin gene (ELN; 130160), one of several genes implicated in WBS, by 16.5 Mb. The authors concluded that there was no link between the 2 disorders in this patient. </p><p>In affected members of a consanguineous Pakistani family with PSPHD, Vincent et al. (2015) identified a homozygous missense mutation in the PSPH gene (A35T; 172480.0004). The mutation, which was found by homozygosity mapping and Sanger sequencing of candidate genes, segregated with the disorder in the family. Enzymatic analysis showed that the mutant protein had approximately 10-fold lower activity than wildtype. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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See 172480.0003 for discussion of a possible association between variation in the PSPH gene and Neu-Laxova syndrome (see 256520).</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>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human PSPH is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </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 PHOSPHOSERINE PHOSPHATASE DEFICIENCY</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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PSPH, ASP32ASN
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<br />
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SNP: rs104894035,
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gnomAD: rs104894035,
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ClinVar: RCV000014593, RCV004691721
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with phosphoserine phosphatase deficiency (PSPHD; 614023) originally reported by Jaeken et al. (1997), Veiga-da-Cunha et al. (2004) identified compound heterozygosity for 2 mutations in the PSPH gene: a 94G-A transition resulting in an asp32-to-asn (D32N) substitution, and a 155T-C transition resulting in a met52-to-thr (M52T; 172480.0002) substitution. The D32N change occurs in a fairly well-conserved region of the protein, and the M52T change in an extremely well-conserved area. The patient's father and mother were heterozygous for the D32N and the M52T mutation, respectively, indicating autosomal recessive inheritance. In vitro expression studies showed that the D32N mutation reduced enzyme activity by 50%, and the M52T mutation virtually abolished enzyme activity. The changes were consistent with kinetic properties observed in the patient's fibroblasts. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 PHOSPHOSERINE PHOSPHATASE DEFICIENCY</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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PSPH, MET52THR
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<br />
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SNP: rs104894036,
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ClinVar: RCV000014594
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the met52-to-thr (M52T) mutation in the PSPH gene that was found in compound heterozygous state in a patient with phosphoserine phosphatase deficiency (PSPHD; 614023) by Veiga-da-Cunha et al. (2004), see 172480.0001. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
PSPH, 1-BP DEL, 267C
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<br />
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|
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SNP: rs587777773,
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ClinVar: RCV000144443
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its contribution to Neu-Laxova syndrome (see 256520) has not been confirmed.</p><p>In the unaffected related parents and an unaffected sib of a fetus with Neu-Laxova syndrome (see 256520), Acuna-Hidalgo et al. (2014) identified a heterozygous 1-bp deletion (c.267delC) in the PSPH gene resulting in a frameshift and premature termination (Gly90AlsfsTer2) predicted to result in complete loss of function. The authors inferred from this that the fetus was homozygous for the mutation; no DNA was available from the fetus to test for homozygosity. The mutation was not present in the Exome Sequencing Project database; functional studies of the variant were not performed. The fetus had multiple congenital anomalies, including intrauterine growth retardation, microcephaly, low-set ears, flat nose, micrognathia, abnormal mouth, digital and limb deformities, rocker-bottom feet, ichthyosis, and widely spaced nipples. Acuna-Hidalgo et al. (2014) noted that some features of the phenotype overlapped with, but were more severe than, those reported in PSPH deficiency, suggesting that the prenatal lethality of NLS2 represents the more severe end of a phenotypic spectrum. The findings emphasized the critical importance of serine availability in early embryonic and fetal development. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PHOSPHOSERINE PHOSPHATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PSPH, ALA35THR
|
|
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|
|
<br />
|
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|
|
SNP: rs786204793,
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|
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ClinVar: RCV000169687
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large consanguineous Pakistani family with phosphoserine phosphatase deficiency (PSPHD; 614023), Vincent et al. (2015) identified a homozygous c.103G-A transition (c.103G-A, NM_004577.3) in the PSPH gene, resulting in an ala35-to-thr (A35T) substitution at a highly conserved residue in a small hydrophobic pocket near the catalytic site. The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family, and was not present in the dbSNP (build 138), 1000 Genomes Project, or Exome Variant Server databases, or in 250 Pakistani controls. Enzymatic analysis showed that the mutant protein had approximately 10-fold lower activity than wildtype, and plasma levels of serine and glycine were decreased in 2 patients tested. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Sparkes et al. (1983)
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others.
|
|
<strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong>
|
|
Am. J. Hum. Genet. 95: 285-293, 2014.
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[PubMed: 25152457]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.07.012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Caiulo, A., Bardoni, B., Camerino, G., Guioli, S., Minelli, A., Piantanida, M., Crosato, F., Dalla Fior, T., Maraschio, P.
|
|
<strong>Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl.</strong>
|
|
Hum. Genet. 84: 51-54, 1989.
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[PubMed: 2558067]
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[Full Text: https://doi.org/10.1007/BF00210670]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Collet, J.-F., Gerin, I., Rider, M. H., Veiga-da-Cunha, M., Van Shaftingen, E.
|
|
<strong>Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate.</strong>
|
|
FEBS Lett. 408: 281-284, 1997.
|
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|
[PubMed: 9188776]
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[Full Text: https://doi.org/10.1016/s0014-5793(97)00438-9]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Jaeken, J., Detheux, M., Fryns, J.-P., Collet, J.-F., Alliet, P., Van Schaftingen, E.
|
|
<strong>Phosphoserine phosphatase deficiency in a patient with Williams syndrome.</strong>
|
|
J. Med. Genet. 34: 594-596, 1997.
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[PubMed: 9222972]
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[Full Text: https://doi.org/10.1136/jmg.34.7.594]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Koch, G. A., Eddy, R. L., Haley, L. L., Byers, M. G., McAvoy, M., Shows, T. B.
|
|
<strong>Assignment of the human phosphoserine gene (PSP) to the pter-q22 region of chromosome 7.</strong>
|
|
Cytogenet. Cell Genet. 35: 67-69, 1983.
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|
[PubMed: 6297854]
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[Full Text: https://doi.org/10.1159/000131839]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Moro-Furlani, A. M., Turner, V. S., Hopkinson, D. A.
|
|
<strong>Genetical and biochemical studies on human phosphoserine phosphatase.</strong>
|
|
Ann. Hum. Genet. 43: 323-333, 1980.
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|
|
[PubMed: 6249179]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1980.tb01566.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Novelli, G., Dallapiccola, B.
|
|
<strong>Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.</strong>
|
|
Ann. Genet. 31: 195-196, 1988.
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|
|
[PubMed: 2851960]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Mohandas, T., Sparkes, M. C.
|
|
<strong>The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis.</strong>
|
|
Cytogenet. Cell Genet. 35: 70-71, 1983.
|
|
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|
|
[PubMed: 6297855]
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[Full Text: https://doi.org/10.1159/000131840]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Veiga-da-Cunha, M., Collet, J.-F., Prieur, B., Jaeken, J., Peeraer, Y., Rabbijns, A., van Schaftingen, E.
|
|
<strong>Mutations responsible for 3-phosphoserine phosphatase deficiency.</strong>
|
|
Europ. J. Hum. Genet. 12: 163-166, 2004.
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|
|
[PubMed: 14673469]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201083]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Vincent, J. B., Jamil, T., Rafiq, M. A., Anwar, Z., Ayaz, M., Hameed, A., Nasr, T., Naeem, F., Khattak, N. A., Carter, M., Ahmed, I., John, P., Wiame, E., Andrade, D. M., Schaftingen, E. V., Mir, A., Ayub, M.
|
|
<strong>Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. (Letter)</strong>
|
|
Clin. Genet. 87: 296-298, 2015.
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[PubMed: 25080166]
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[Full Text: https://doi.org/10.1111/cge.12445]
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Ada Hamosh - updated : 02/21/2017<br>Cassandra L. Kniffin - updated : 3/25/2015<br>Cassandra L. Kniffin - updated : 9/30/2014<br>Cassandra L. Kniffin - updated : 6/15/2004<br>Jennifer P. Macke - updated : 3/12/1999<br>Michael J. Wright - updated : 12/18/1997
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Victor A. McKusick : 6/2/1986
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