Associated Papers
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Xie Y et al.
Orphanet Journal of Rare Diseases, 2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Nardecchia F et al.
Annals of Clinical and Translational Neurology, 2024
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
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