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  1. Article

    Open Access

    Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort

    The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene (MMACHC) c.482G > A mutation in 195 Chinese cases w...

    Sheng-Nan Wu, Hui-Shu E, Yue Yu, Shi-Ying Ling, Li-Li Liang… in World Journal of Pediatrics (2023)

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