Varaico: Literature-Extracted Genetic Variants

Gene:COA6
Variant:p.W59C
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COA6

NM_001012985.2:p.W59C

Associated Papers

Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

Pacheu-Grau D et al.

Cell Metabolism, 2015

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Baertling F et al.

Human Mutation, 2015

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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."