Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
40400026 (PubMed )
Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › VC_validation_cohort
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.
Jennions E et al.
American Journal of Medical Genetics. Part A, 2024
Mutations in the Yeast Cox12 Subunit Severely Compromise the Activity of the Mitochondrial Complex IV.
Das S et al.
Biochemistry. Biokhimiia, 2021
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012
Select a paper to view details