MITOMAP References for RNA Mutation G12192A

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Index PMID Date Reference
1 10621222 2000 Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-Oka, T. (2000) A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy American Journal of Human Genetics . 67 (6): 1617-1620 .
2 12560876 2003 Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I., Goto, Y. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy Journal of Human Genetics . 48 (1): 47-50 .
3 30854964 2019 Ding, Y., Teng, Y. S., Zhuo, G. C., Xia, B. H., Leng, J. H. (2019) The mitochondrial tRNAHis G12192A mutation may modulate the clinical expression of deafness-associated tRNAThr G15927A mutation in a Chinese pedigree Current Molecular Medicine . 19 (2): 136-146 .
4 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 .
5 33552719 2021 Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 .