Varaico: Literature-Extracted Genetic Variants

Gene:KCNH5
Variant:p.K214Q
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KCNH5

NM_139318.5:p.K214Q

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

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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."