MITOMAP References for Variant T-C at 14849

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PMID Reference
20544923 Massie, R., Wong, L. J., Milone, M. (2010) Exercise intolerance due to cytochrome b mutation Muscle and Nerve . 42 (1): 136-140 .
21457906 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
11891837 Schuelke, M., Krude, H., Finckh, B., Mayatepek, E., Janssen, A., Schmelz, M., Trefz, F., Trijbels, F., Smeitink, J. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation Annals of Neurology . 51 (3): 388-392 .