Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L1573P
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SCN2A

NM_001040142.2:p.L1573P

Associated Papers

Epileptic encephalopathy patients with SCN2A variant initiated by neonatal seizure.

Morichi S et al.

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

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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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."