Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.V794D
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KCNH2

NM_000238.4:p.V794D

Associated Papers

Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death.

Hata Y et al.

Journal of Neurology, 2023

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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."