Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.I407M
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KCNA3

NM_002232.5:p.I407M

Associated Papers

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.

Ferrick-Kiddie EA et al.

Scientific Reports, 2017

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

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2015

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

Tomlinson SE et al.

Brain : a Journal of Neurology, 2010

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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."