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P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

Parith Wongkittichote, Laura Duque Lasio,Martina Magistrati,Sheel Pathak,Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega,Claudio de Gusmao,Matheus Castro,Tomi Toler,Emanuele Bellacchio,Cristina Dallabona,Marwan Shinawi

Genetics in Medicine Open（2023）

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关键词
primary coq10 deficiency,pathogenic variants,cohort,p360
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