Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.G139E
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KCNK4

NM_033310.3:p.G139E

Associated Papers

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

Yan HJ et al.

Frontiers in Genetics, 2025

Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy.

Yan HJ et al.

Frontiers in Molecular Neuroscience, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."