Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R1315G
Back to variants list

SCN2A

NM_001040142.2:p.R1315G

Associated Papers

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Berg AT et al.

Brain : a Journal of Neurology, 2024

38651838 (PubMed )
Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."