Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.R125H
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SCN1B

NM_001037.5:p.R125H

Associated Papers

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

Dong R et al.

Journal of Human Genetics, 2024

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.

Blazekovic A et al.

Genes, 2022

36011376 (PubMed )
Supplement: genes-13-01466-s001.zip › genes-1800327-supplementary.pdf
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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."