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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN4A

Variant:p.C1209G

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SCN4A

NM_000334.4:p.C1209G

hg38:chr17:63945455 A>C

Associated Papers

Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia.

Fletcher JE et al.

British Journal of Anaesthesia, 1995

7547049 (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."