Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L886S
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SCN2A

NM_001040142.2:p.L886S

Associated Papers

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Zhang S et al.

Pediatric Research, 2025

40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

Zhang R et al.

Bmc Pediatrics, 2024

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.

Zeng Q et al.

Frontiers in Molecular Neuroscience, 2022

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

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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