MITOMAP References for Mutation T-C at 9166

Download PMID list

Index PMID Date Reference
1 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 .
2 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 .