MITOMAP References for Mutation A-G at 9134

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1 22231385 2012 Honzik, T., Tesarova, M., Magner, M., Mayr, J., Jesina, P., Vesela, K., Wenchich, L., Szentivanyi, K., Hansikova, H., Sperl, W., Zeman, J. (2012) Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis Journal of Inherited Metabolic Disease 35 (5): 749-759 .
2 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .