Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.L1332P
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SCN8A

NM_001330260.2:p.L1332P

Associated Papers

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.

Choi SA et al.

Clinical and Experimental Pediatrics, 2026

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
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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."