Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.C1756G
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SCN1A

NM_001165963.4:p.C1756G

Associated Papers

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.

Herini ES et al.

Epilepsy Research, 2010

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

Herini ES et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2010

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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."