Varaico: Literature-Extracted Genetic Variants

Gene:KCNH5
Variant:p.F471S
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KCNH5

NM_139318.5:p.F471S

Associated Papers

Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children.

Huang S et al.

Epilepsy & Behavior Reports, 2024

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

Happ HC et al.

Neurology, 2023

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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."