HIGHLIGHTS
- who: Qin Zhang and colleagues from the Department of Cardiology, Children`s Hospital of Soochow University, Suzhou, China have published the research work: Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review, in the Journal: Genes 2023, 14, x FOR PEER REVIEW of 20/02/2023
- what: The study provides novel insight into understanding the clinical diagnosis and genetic counseling of patients with COXPD23 by exploring the genetic pathogenesis and genotype-phenotype correlation of COXPD23. The authors report a case of Combined Oxidative Phosphorylation Deficiency 23 caused by compound . . .
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