Evaluating ClinGen variant curation expert panels' application of PVS1 code
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference37 articles.
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3. Specifications of the ACMG/AMP variant curation guidelines for myocilin: recommendations from the clingen glaucoma expert panel;Burdon;Hum. Mutat.,2022
4. NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor;Chen;J. Biol. Chem.,1990
5. The clinical Genome Resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for LDLR variant classification;Chora;Genet. Med.,2022
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