Index | PMID | Date | Reference |
---|---|---|---|
1 | 28027978 | 2017 | Bacalhau, M., Pratas, J., Simoes, M., Mendes, C., Ribeiro, C., Santos, M. J., Diogo, L., Macario, M. C., Grazina, M. (2017) In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes European Journal of Medical Genetics . 60 (3): 172-177, additional variants in supplement . |
2 | 32419253 | 2020 | Zereg, E., Chaussenot, A., Morel, G., Bannwarth, S., Sacconi, S., Soriani, M. H., Attarian, S., Cano, A., Pouget, J., Bellance, R., Tranchant, C., Lannes, B., de Paula, A. M., Saadi Ait-El-Mkadem, S., Chafino, B., Berthet, M., Fragaki, K., Paquis-Flucklinger, V., Rouzier, C. (2020) Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases Human Mutation . 41 (8): 1394-1406 . |