Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Y475del1
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KCNH2

NM_000238.4:p.Y475del1

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

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."