MITOMAP References for Mutation T-C at 9166

Download PMID list

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 .