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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.L863_L864Splc

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SCN1A

NM_001165963.4:p.L863_L864Splc

hg38:chr2:166038140 A>C

Associated Papers

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Sparber P et al.

Brain : a Journal of Neurology, 2024

37956038 (PubMed )

Pitfalls in genetic testing: the story of missed SCN1A mutations.

Djémié T et al.

Molecular Genetics & Genomic Medicine, 2016

27465585 (PubMed )

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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."