Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.C277R
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SCN1A

NM_001165963.4:p.C277R

Associated Papers

Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.

Luiza Benevides M et al.

Epilepsy & Behavior : E&b, 2024

Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children.

Fang ZX et al.

Neuroreport, 2019

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

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
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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."