Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.N892delFs
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SCN1A

NM_001165963.4:p.N892delFs

Associated Papers

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

SCN9A: another sodium channel excited to play a role in human epilepsies.

Doty CN

Clinical Genetics, 2010

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA et al.

Plos Genetics, 2009

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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."