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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.K1492_F1493Splc

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SCN1A

NM_001165963.4:p.K1492_F1493Splc

hg38:chr2:165998033 C>T

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 )

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Alvarez-Mora MI et al.

Genes, 2023

37107571 (PubMed )

Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf

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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."