MITOMAP References for RNA Mutation A1661G

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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 32715519 2020 Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y. M., Fu, Y. H., Ptacek, L. J. (2020) A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family Annals of Neurology . 88 (4): 830-842 .