Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.I1483fs
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SCN1A

NM_001165963.4:p.I1483fs

Associated Papers

Tiered analysis of whole-exome sequencing for epilepsy diagnosis.

Dunn PJ et al.

Molecular Genetics and Genomics : Mgg, 2020

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

Myers CT et al.

The New England Journal of Medicine, 2018

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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."