Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.M1481V
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SCN8A

NM_001330260.2:p.M1481V

Associated Papers

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

D'Gama AM et al.

The Lancet. Neurology, 2023

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.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."