Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.A1319T
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SCN8A

NM_001330260.2:p.A1319T

Associated Papers

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Johannesen KM et al.

Brain : a Journal of Neurology, 2022

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.

O'Brien JE et al.

Frontiers in Genetics, 2013

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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."