Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A1674P
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SCN1A

NM_006920.6:p.A1674P

Associated Papers

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Matricardi S et al.

Epilepsia, 2023

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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."