Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.V250I
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SCN1A

NM_001165963.4:p.V250I

Associated Papers

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Ngoh A et al.

Annals of Neurology, 2025

Dravet syndrome diagnosed in adults.

Dudley AM et al.

Practical Neurology, 2025

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient_PALB2_mutant

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."