Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A715_V716Splc
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KCNH2

NM_000238.4:p.A715_V716Splc

Associated Papers

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

Singer ES et al.

Npj Genomic Medicine, 2023

37821546 (PubMed )
Supplement: 41525_2023_373_MOESM2_ESM.xlsx › Table_S1_Demographics

Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young.

Bagnall RD et al.

Heart Rhythm, 2014

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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."