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
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Xie Y et al.
Orphanet Journal of Rare Diseases, 2024
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing.
Wang Y et al.
Heliyon, 2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Nardecchia F et al.
Annals of Clinical and Translational Neurology, 2024
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P et al.
American Journal of Medical Genetics. Part A, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q et al.
Genes, 2023
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Yan HM et al.
Frontiers in Genetics, 2021
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