Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P872delFs
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KCNH2

NM_000238.4:p.P872delFs

Associated Papers

Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.

Stava TT et al.

Clinical Genetics, 2024

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

Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.

Samol A et al.

Plos One, 2016

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

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

Johnson JN et al.

Neurology, 2009

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

Paulussen AD et al.

Cardiovascular Research, 2005

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R et al.

Human Mutation, 2002

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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."