MITOMAP References for Variant T-C at 8851

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Index PMID Date Reference
1 8554662 1995 De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E., Desprechins, B. (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene Pediatric Neurology . 13 (3): 242-246 .
2 18620007 2009 Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 .
3 21457906 2011 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 .
4 21470976 2011 Guerra, F., Kurelac, I., Cormio, A., Zuntini, R., Amato, L. B., Ceccarelli, C., Santini, D., Cormio, G., Fracasso, F., Selvaggi, L., Resta, L., Attimonelli, M., Gadaleta, M. N., Gasparre, G. (2011) Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma Human Molecular Genetics . 20 (12): 2394-2405 .
5 23206802 2013 Honzik, T., Tesarova, M., Vinsova, K., Hansikova, H., Magner, M., Kratochvilova, H., Zamecnik, J., Zeman, J., Jesina, P. (2013) Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene Molecular Genetics and Metabolism 108 (1): 102-105 .
6 24002810 2013 Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 .
7 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 .
8 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
9 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutation . 41 (10): .