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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN8A

Variant:p.W937*

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SCN8A

NM_001330260.2:p.W937*

hg38:chr12:51765936 G>A

Associated Papers

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.

Mancuso G et al.

International Journal of Molecular Sciences, 2026

41596607 (PubMed )

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Lyu H et al.

Ebiomedicine, 2023

38251463 (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."