Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.E325Q
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KCNA1

NM_000217.3:p.E325Q

Associated Papers

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.

Paulhus K et al.

International Journal of Molecular Sciences, 2023

Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation.

Jorge A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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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."