Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L170R
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SCN1A

NM_001165963.4:p.L170R

Associated Papers

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.

Lin SXN et al.

Brain : a Journal of Neurology, 2024

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

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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."