Evaluating ClinGen variant curation expert panels' application of PVS1 code-Reference-Cited by-同舟云学术

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Evaluating ClinGen variant curation expert panels' application of PVS1 code

Published:2024-02 Issue: Volume:67 Page:104909
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wang Xiaoyan,Li Haibo,Luo Haiyan,Zou Yongyi,Li Haoxian,Qin Yayun,Song Jieping^ORCID

Publisher

Elsevier BV

Reference37 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion;Abou;Hum. Mutat.,2018

2. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework;Brnich;Genome Med.,2019

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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