Varaico: Literature-Extracted Genetic Variants

Gene:KCNA4
Variant:p.F249I
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KCNA4

NM_002233.4:p.F249I

Associated Papers

The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.

Chen SH et al.

Scientific Reports, 2016

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2015

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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."