Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.D336G
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COX10

NM_001303.4:p.D336G

Associated Papers

Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.

Voges TS et al.

Bmc Research Notes, 2024

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

Oligomerization of heme o synthase in cytochrome oxidase biogenesis is mediated by cytochrome oxidase assembly factor Coa2.

Khalimonchuk O et al.

The Journal of Biological Chemistry, 2012

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."