MITOMAP References for RNA Mutation C3254G

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Index PMID Date Reference
1 9270605 1997 Kawarai, T., Kawakami, H., Kozuka, K., Izumi, Y., Matsuyama, Z., Watanabe, C., Kohriyama, T., Nakamura, S. (1997) A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G Neurology . 49 (2): 598-600 .
2 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
3 29161289 2017 Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 .
4 34599203 2021 Klink, G. V., O'Keefe, H., Gogna, A., Bazykin, G. A., Elson, J. L. (2021) A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations Scientific Reports . 11 (1): 19578 .