Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A1017S
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KCNH2

NM_000238.4:p.A1017S

Associated Papers

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.

Alameh M et al.

Frontiers in Physiology, 2023

36860515 (PubMed )
Supplement: Table2.xlsx › missense_variants

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
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