Decoding KCNH2 variants of unknown significance
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Physiology (medical),Cardiology and Cardiovascular Medicine
Reference8 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
2. High-throughput functional evaluation of KCNQ1 decrypts variants of unknown significance;Vanoye;Circ Genom Precis Med,2018
3. Spectrum of KV2.1 dysfunction in KCNB1-associated neurodevelopmental disorders;Kang;Ann Neurol,2019
4. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies;Stenson;Hum Genet,2017
5. ClinVar: public archive of relationships among sequence variation and human phenotype;Landrum;Nucleic Acids Res,2014
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