Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K1479*
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SCN1A

NM_001353955.2:p.K1479*

Associated Papers

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

Luiza Benevides M et al.

Epilepsy & Behavior : E&b, 2024

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

The SCN1A gene variants and epileptic encephalopathies.

Parihar R et al.

Journal of Human Genetics, 2013

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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."