Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.R228H
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COX10

NM_001303.4:p.R228H

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

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

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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