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J. A. Smeitink, O. Elpeleg, H. Antonicka, H. Diepstra, A. Saada, P. Smits, et al., “Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs,” The American Journal of Human Genetics, Vol. 79, No. 5, 2006, pp. 869-877. doi:10.1086/508434

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