A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome-Reference-Cited by-同舟云学术

A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome

Published:2021-11 Issue: Volume: Page:
ISSN:1547-5271
Container-title:Heart Rhythm
language:en
Short-container-title:Heart Rhythm

Author:

Bains Sahej,Dotzler Steven M.,Krijger Christian,Giudicessi John R.,Ye Dan,Bikker Hennie,Rohatgi Ram K.,Tester David J.,Bos J. Martijn,Wilde Arthur A.M.,Ackerman Michael J.

Publisher

Elsevier BV

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Reference20 articles.

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2. Genotype- and phenotype-guided management of congenital long QT syndrome;Giudicessi;Curr Probl Cardiol,2013

3. Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants;Kapa;Circulation,2009

4. 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

5. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome;Ackerman;Mayo Clin Proc,2003

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