Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.G139R
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KCNK4

NM_033310.3:p.G139R

Associated Papers

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

Yan HJ et al.

Frontiers in Genetics, 2025

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

Krygier M et al.

Seizure, 2024

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