Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.A1818D
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SCN3A

NM_006922.4:p.A1818D

Associated Papers

RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.

Bandi V et al.

Hgg Advances, 2025

39482882 (PubMed )
Supplement: mmc4.xlsx › Table_S2
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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."