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 › SC_supporting_cohort_probands
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S et al.
Human Genetics, 2023
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