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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN3B

Variant:p.A195Splc

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SCN3B

NM_001040151.2:p.A195Splc

hg38:chr11:123638185 C>T

Associated Papers

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia.

Routledge N et al.

Annals of Neurology, 2025

40879121 (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."