Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E1143_K1144Splc
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SCN1A

NM_001165963.4:p.E1143_K1144Splc

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

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Gorman KM et al.

Brain Communications, 2021

34755109 (PubMed )
Supplement: fcab235_supplementary_data.zip › Original_Submission_-Author_s_Response.pdf
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