Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S871C
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KCNH2

NM_000238.4:p.S871C

Associated Papers

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Soh MS et al.

Annals of Clinical and Translational Neurology, 2021

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