Associated Papers
Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.
Li Q et al.
Genes & Diseases, 2025
39397867 (PubMed )
Supplement: mmc1.docx
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Nardecchia F et al.
Annals of Clinical and Translational Neurology, 2024
Select a paper to view details