Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.P1719fs
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SCN8A

NM_001330260.2:p.P1719fs

Associated Papers

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

Lyu H et al.

Ebiomedicine, 2023

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Wagnon JL et al.

Human Mutation, 2018

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

Blanchard MG et al.

Journal of Medical Genetics, 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."