Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A201Splc
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SCN1A

NM_001165963.4:p.A201Splc

Associated Papers

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Sparber P et al.

Brain : a Journal of Neurology, 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
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