Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.D404V
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COX10

NM_001303.4:p.D404V

Associated Papers

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira JD et al.

Genes, 2021

Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals.

Moraes CT et al.

Biochimica Et Biophysica Acta, 2004

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Antonicka H et al.

Human Molecular Genetics, 2003

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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."