Varaico: Literature-Extracted Genetic Variants

Gene:KCNH5
Variant:p.I463T
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KCNH5

NM_139318.5:p.I463T

Associated Papers

A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.

Mitsutake A et al.

Internal Medicine (tokyo, Japan), 2025

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

Happ HC et al.

Neurology, 2023

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Imafidon ME et al.

Frontiers in Pediatrics, 2021

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