Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.E1125V
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PHKA2

NM_000292.3:p.E1125V

Associated Papers

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.

Imbrici P et al.

Biomedicines, 2021

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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."