Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.A1899fs
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SCN10A

NM_006514.4:p.A1899fs

Associated Papers

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Al Anazi AH et al.

Human Genomics, 2022

36539902 (PubMed )
Supplement: 40246_2022_444_MOESM1_ESM.xlsx › Epilepsy_Pathogenic_variants

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

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