Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.R379L
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KCNK4

NM_033310.3:p.R379L

Associated Papers

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.

Yan HJ et al.

Frontiers in Genetics, 2025

40230348 (PubMed )
Supplement: Table1.xlsx › VUS

COSMIC-based mutation database enhances identification efficiency of HLA-I immunopeptidome.

Wang F et al.

Journal of Translational Medicine, 2024

38336780 (PubMed )
Supplement: 12967_2023_4821_MOESM4_ESM.xlsx › HEPG2mutations
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