TY  - JOUR
AU  - Li, Yan-Yan
AU  - Gao, Yan
AU  - Zhong, Xiong-Xiong
AU  - Chen, Guang-Fu
PY  - 2025
TI  - A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review
JF  - Translational Pediatrics; Vol 14, No 2 (February 28, 2025): Translational Pediatrics
Y2  - 2025
KW  - 
N2  - 
UR  - https://tp.amegroups.org/article/view/135005