Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R219G
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SCN1A

NM_001165963.4:p.R219G

Associated Papers

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.

Yao R et al.

Frontiers in Genetics, 2021

34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1

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

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.

Usluer S et al.

Seizure, 2016

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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."