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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for <i>LDLR</i> variant classification

2021-03-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia (FH) Variant Curation Expert Panel (VCEP) was tasked with op...

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Literature Corpus work: bbb1c639-03bc-5183-bdfe-45d9ef9869ea
DOI: 10.1101/2021.03.17.21252755

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