Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.E876*
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KCNH2

NM_000238.4:p.E876*

Associated Papers

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

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

Wearable cardioverter defibrillators for patients with long QT syndrome.

Owen HJ et al.

International Journal of Cardiology, 2018

Influence of genetic modifiers on sudden cardiac death cases.

Jenewein T et al.

International Journal of Legal Medicine, 2018

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc

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

Johnson JN et al.

Neurology, 2009

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."