MITOMAP References for Variant C-T at 8382

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Index PMID Date Reference
1 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 .
2 37340059 2023 Panja, C., Niedzwiecka, K., Baranowska, E., Poznanski, J., Kucharczyk, R. (2023) Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism Scientific Reports . 13 (1): 9972 .
3 38465286 2024 Nogueira, C., Pereira, C., Silva, L., Laranjeira, M., Lopes, A., Neiva, R., Rodrigues, E., Campos, T., Martins, E., Bandeira, A., Coelho, M., Magalhaes, M., Damasio, J., Gaspar, A., Janeiro, P., Gomes, A. L., Ferreira, A. C., Jacinto, S., Vieira, J. P., Diogo, L., Santos, H., Mendonca, C., Vilarinho, L. (2024) The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Frontiers in Cell and Developmental Biology . 12 (): 1331351 .