Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.S312C
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SCN2A

NM_001040142.2:p.S312C

Associated Papers

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

McTague A et al.

Neurology, 2018

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M

Pediatric Neurology, 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."