Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L224W
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SCN1A

NM_001165963.4:p.L224W

Associated Papers

Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.

Dong R et al.

Journal of Human Genetics, 2024

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Nashabat M et al.

Seizure, 2019

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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."