Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.V255_F256delFs
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SCN1A

NM_001165963.4:p.V255_F256delFs

Associated Papers

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Bhatia S et al.

European Journal of Human Genetics : Ejhg, 2024

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN et al.

Epilepsy Research, 2018

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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."