Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Y1462fs
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SCN1A

NM_001165963.4:p.Y1462fs

Associated Papers

Novel and de novo mutations in pediatric refractory epilepsy.

Liu J et al.

Molecular Brain, 2018

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN et al.

Epilepsy Research, 2018

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Staněk D et al.

Orphanet Journal of Rare Diseases, 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."