MITOMAP References for RNA Mutation G5631A

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Index PMID Date Reference
1 25873012 2015 Lehmann, D., Schubert, K., Joshi, P. R., Hardy, S. A., Tuppen, H. A., Baty, K., Blakely, E. L., Bamberg, C., Zierz, S., Deschauer, M., Taylor, R. W. (2015) Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy European Journal of Human Genetics . 23 (12): 1735-1738 .
2 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .