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Congenital Coenzyme Q5-linked Pathology: Causal Genetic Association, Core Phenotype, and Molecular Mechanism

Mateusz Dawidziuk,Aleksandra Podwysocka,Marta Jurek,Ewa Obersztyn,Monika Bekiesinska-Figatowska,Alicja Goszczanska-Ciuchta,Ewelina Bukowska-Olech,Agnieszka Magdalena Rygiel,Dorothy Lys Guilbride,Wojciech Wiszniewski,Pawel Gawlinski

Journal of Applied Genetics（2023）

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关键词
COQ5,COQ10,Molecular mechanism,Expansion of the phenotype
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