Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.E50*
Back to variants list

KCNH2

NM_000238.4:p.E50*

Associated Papers

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Crotti L et al.

Journal of the American College of Cardiology, 2012

Atrial Arrhythmias in long-QT syndrome under daily life conditions: a nested case control study.

Zellerhoff S et al.

Journal of Cardiovascular Electrophysiology, 2009

Novel human pathological mutations.

Unknown Author

Human Genetics, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."