MITOMAP References for Mutation T-C at 8999

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Index PMID Date Reference
1 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 .
2 32858252 2020 Rucheton, B., Jardel, C., Filaut, S., Amador, M. D. M., Maisonobe, T., Serre, I., Romero, N. B., Leonard-Louis, S., Haraux, F., Lombes, A. (2020) Homoplasmic deleterious MT-ATP6/8 mutations in adult patients Mitochondrion . 55 (): 64-77 .