Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Q1427*
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SCN1A

NM_001165963.4:p.Q1427*

Associated Papers

Holistic Exome-Based Genetic Testing in Adults With Epilepsy.

Krenn M et al.

Neurology. Genetics, 2025

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

Heron SE et al.

Journal of Medical Genetics, 2010

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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."