Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P1020insFs
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KCNH2

NM_000238.4:p.P1020insFs

Associated Papers

Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.

Janková N et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026

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

Actionable Exomic Secondary Findings in 280 Lebanese Participants.

Jalkh N et al.

Frontiers in Genetics, 2020

Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.

Chae H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."