Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1033fs
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KCNH2

NM_000238.4:p.R1033fs

Associated Papers

Role of HCN4 channel in preventing ventricular arrhythmia.

Ueda K et al.

Journal of Human Genetics, 2009

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

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."