Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.R1913W
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SCN8A

NM_001330260.2:p.R1913W

Associated Papers

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Lyu H et al.

Ebiomedicine, 2023

JAK2 regulates Nav1.6 channel function via FGF14Y158 phosphorylation.

Wadsworth PA et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2020

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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."