Varaico: Literature-Extracted Genetic Variants

Gene:KCNH3
Variant:p.A371V
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KCNH3

NM_012284.3:p.A371V

Associated Papers

Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.

Bauer CK et al.

Seizure, 2025

KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation.

Bauer CK et al.

International Journal of Molecular Sciences, 2025

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