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A novel polyribonucleotide nucleotidyltransferase 1 (
PNPT1
) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review
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@article{{TP}{135005}, author = {Li, Y., Gao, Y., Zhong, X., Chen, G.}, title = {A novel polyribonucleotide nucleotidyltransferase 1 (<em>PNPT1</em>) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review}, journal = {Translational Pediatrics}, volume = {14}, number = {2}, year = {2025}, url = {https://tp.amegroups.org/article/view/135005} }