Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.G880R
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SCN1A

NM_006920.6:p.G880R

Associated Papers

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Wild KT et al.

Genetics in Medicine Open, 2026

41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Park S et al.

Frontiers in Genetics, 2022

36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2

Analysis of trio test in neurodevelopmental disorders.

Kim SH et al.

Frontiers in Pediatrics, 2022

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

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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."