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H. Antonicka, E. Ostergaard, F. Sasarman, W. Weraarpachai, F. Wibrand, A. M. Pedersen, R. J. Rodenburg, M. S. van der Knaap, J. A Smeitink, et al., “Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect,” The American Journal of Human Genetics, Vol. 87, No. 1, 2010, pp. 115-122. doi:10.1016/j.ajhg.2010.06.004

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