Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.V1428_A1429Splc
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SCN1A

NM_001165963.4:p.V1428_A1429Splc

Associated Papers

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Wang JY et al.

Frontiers in Molecular Neuroscience, 2022

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

Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A.

Xiong Z et al.

Journal of the Neurological Sciences, 2016

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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."