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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

2024-11-20

Abstract excerpt

<h4>Purpose: </h4> The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need. <h4>Methods:</h4> The SD-GCEP applied the ClinGen framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Rela...

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Literature Corpus work
025a5cf3-c558-55ce-bc80-c4992d4c0e69
DOI
10.1101/2024.11.19.24317561
Open publication

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsDOI 10.1101/2024.11.19.24317561
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