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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN8A

Variant:p.R226Q

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SCN8A

NM_001330260.2:p.R226Q

hg38:chr12:51689067 G>A

Associated Papers

Clinical and genetic analysis of epilepsy in children with SCN8A gene variants.

Li R et al.

Seizure, 2026

41380541 (PubMed )

Whole-exome analysis in osteosarcoma to identify a personalized therapy.

Chiappetta C et al.

Oncotarget, 2017

29113313 (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."