Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L1331V
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SCN2A

NM_001040142.2:p.L1331V

Associated Papers

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."