Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.P1837L
Back to variants list

SCN1A

NM_001165963.4:p.P1837L

Associated Papers

A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.

Chourasia N et al.

Pediatric Neurology, 2024

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

Dong R et al.

Journal of Human Genetics, 2024

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."