A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review
@article{TP135005, author = {Yan-Yan Li and Yan Gao and Xiong-Xiong Zhong and Guang-Fu Chen}, title = {A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review}, journal = {Translational Pediatrics}, volume = {14}, number = {2}, year = {2025}, keywords = {}, abstract = {}, issn = {2224-4344}, url = {https://tp.amegroups.org/article/view/135005} }