Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.L1657P
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SCN8A

NM_001330260.2:p.L1657P

Associated Papers

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.

Berecki G et al.

Brain : a Journal of Neurology, 2025

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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."