Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G800Splc
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KCNH2

NM_000238.4:p.G800Splc

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

Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.

O'Neill MJ et al.

Circulation. Genomic and Precision Medicine, 2022

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

Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome.

Anderson JH et al.

Heart Rhythm, 2014

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.

Tester DJ et al.

Journal of the American College of Cardiology, 2007

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

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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."