Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
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
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Rius R et al.
Journal of Clinical Medicine, 2019
Select a paper to view details