Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.W1594C
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SCN2A

NM_001040142.2:p.W1594C

Associated Papers

Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.

Hieu NLT et al.

American Journal of Medical Genetics. Part A, 2022

Epileptic encephalopathy patients with SCN2A variant initiated by neonatal seizure.

Morichi S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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