Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K1492_F1493Splc
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SCN1A

NM_001165963.4:p.K1492_F1493Splc

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.

Mahdieh N et al.

Clinical Neurology and Neurosurgery, 2018

The SCN1A gene variants and epileptic encephalopathies.

Parihar R et al.

Journal of Human Genetics, 2013

[Association between sequence variation of Env, Gag genes from the same source and HIV-1 disease progression and host genetic polymorphism].

Bai LS et al.

Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2007

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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."