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
Structural insights into human PNPase in health and disease.
Li YC et al.
Nucleic Acids Research, 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_
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