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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN8A

Variant:p.V1874L

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SCN8A

NM_001330260.2:p.V1874L

hg38:chr12:51807106 G>C

Associated Papers

Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.

Hoei-Hansen CE et al.

Neuropediatrics, 2021

33706403 (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."