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Ganetzky, Rebecca D.; Stendel, Claudia; McCormick, Elizabeth M.; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C.; Klopstock, Thomas; Falk, Marni J. (2019): MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. In: Human Mutation, Vol. 40, No. 5: pp. 499-515