Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Y616N
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KCNH2

NM_000238.4:p.Y616N

Associated Papers

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

Thomson KL et al.

Hgg Advances, 2024

38219013 (PubMed )
Supplement: mmc2.xlsx › Table_S2_reclassification

Reclassification of genetic variants in children with long QT syndrome.

Westphal DS et al.

Molecular Genetics & Genomic Medicine, 2020

32383558 (PubMed )
Supplement: MGG3-8-e1300-s001.xlsx › Supplement_Tabelle
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