Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.S1723F
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SCN1A

NM_001165963.4:p.S1723F

Associated Papers

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

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Kingsmore SF et al.

American Journal of Human Genetics, 2022

36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8
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