Associated Papers
A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review.
Li YY et al.
Translational Pediatrics, 2025
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Rius R et al.
Journal of Clinical Medicine, 2019
31752325 (PubMed )
Supplement: jcm-08-02020-s001.zip › supplementary_files › S1_Clinical_Phenotype_of_patients_with_PNPT1_variants_11.11.19.xlsx › Table_S1_
Select a paper to view details