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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX6A2

Variant:p.S39S

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COX6A2

NM_005205.4:p.S39S

hg38:chr16:31428108 G>A

Associated Papers

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M et al.

Annals of Neurology, 2019

31155743 (PubMed )

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