Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1005fs
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KCNH2

NM_000238.4:p.R1005fs

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

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Left Cardiac Sympathetic Denervation Monotherapy in Patients With Congenital Long QT Syndrome.

Niaz T et al.

Circulation. Arrhythmia and Electrophysiology, 2020

Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death.

Hata Y et al.

International Journal of Legal Medicine, 2014

Potential depot medroxyprogesterone acetate-triggered torsades de pointes in a case of congenital type 2 long QT syndrome.

Giudicessi JR et al.

Heart Rhythm, 2012

Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome.

Gong Q et al.

Journal of Molecular and Cellular Cardiology, 2011

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

Tester DJ et al.

Heart Rhythm, 2005

Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.

Khositseth A et al.

Heart Rhythm, 2004

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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."