MITOMAP References for RNA Mutation G1606A

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Index PMID Date Reference
1 9450773 1998 Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P., Zeviani, M. (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation Annals of Neurology . 43 (1): 98-101 .
2 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
3 12056939 2002 Sacconi, S., Salviati, L., Gooch, C., Bonilla, E., Shanske, S., DiMauro, S. (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA Archives of Neurology . 59 (6): 1013-1015 .
4 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
5 29340697 2018 Valiente-Palleja, A., Torrell, H., Muntane, G., Cortes, M. J., Martinez-Leal, R., Abasolo, N., Alonso, Y., Vilella, E., Martorell, L. (2018) Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability Human Molecular Genetics . 27 (5): 891-900 .