Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A448G
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KCNH2

NM_000238.4:p.A448G

Associated Papers

Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.

Neubauer J et al.

International Journal of Legal Medicine, 2016

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

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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."