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He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y. Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases. Orphanet Journal of Rare Diseases. 2020 Aug 03;15(1):200. doi: 10.1186/s13023-020-01485-7. |