Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L224F
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SCN1A

NM_001165963.4:p.L224F

Associated Papers

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.

Srinivasan S et al.

Bmc Genomics, 2025

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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."