MITOMAP References for RNA Mutation T5628C

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Index PMID Date Reference
1 11404121 2001 Spagnolo, M., Tomelleri, G., Vattemi, G., Filosto, M., Rizzuto, N., Tonin, P. (2001) A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia Neuromuscular Disorders . 11 (5): 481-484 .
2 16947981 2006 Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 .
3 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 .
4 17434445 2007 Han, D., Dai, P., Zhu, Q., Liu, X., Huang, D., Yuan, Y., Yuan, H., Wang, X., Qian, Y., Young, W. Y., Guan, M. X. (2007) The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss Biochemical and Biophysical Research Communications . 357 (2): 554-560 .
5 29976239 2018 Tseng, C. C., Chen, C. J., Yen, J. H., Huang, H. Y., Chang, J. G., Chang, S. J., Liao, W. T. (2018) Next-generation sequencing profiling of mitochondrial genomes in gout Arthritis Research and Therapy . 20 (1): 137 .
6 32970680 2020 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .
7 33289513 2020 Jiang, P., Ling, Y., Zhu, T., Luo, X., Tao, Y., Meng, F., Cheng, W., Ji, Y. (2020) Mitochondrial tRNA mutations in Chinese children with tic disorders Bioscience Reports . 40 (12): BSR20201856 .