MITOMAP References for Somatic Variant A-G at 3243

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PMID Reference
10051601 Ito, S., Ohta, S., Nishimaki, K., Kagawa, Y., Soma, R., Kuno, S., Komatsuzaki, Y., Mizusawa, H., Hayashi, J.I. (1998) Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease Proceedings of the National Academy of Sciences of the United States of America . 96 (5): 2099-2103 .
12031622 Fayet, G., Jansson, M., Sternberg, D., Moslemi, A.R., Blondy, P., Lombes, A., Fardeau, M., Oldfors, A. (2002) Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function Neuromuscular Disorders . 12 (5): 484-493 .
16120350 Lorenc, A., Bryk, J., Golik, P., Kupryjanczyk, J., Ostrowski, J., Pronicki, M., Semczuk, A., Szolkowska, M., Bartnik, E. (2003) Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample Mitochondrion . 3 (2): 119-124 .
18413815 Mayr, J. A., Meierhofer, D., Zimmermann, F., Feichtinger, R., Kogler, C., Ratschek, M., Schmeller, N., Sperl, W., Kofler, B. (2008) Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma Clinical Cancer Research . 14 (8): 2270-2275 .
24339796 Williams, S. L., Mash, D. C., Zuchner, S., Moraes, C. T. (2013) Somatic mtDNA mutation spectra in the aging human putamen PLoS Genetics . 9 (12): e1003990 .
30689169 Xu, B., Reznik, E., Tuttle, R. M., Knauf, J., Fagin, J. A., Katabi, N., Dogan, S., Aleynick, N., Seshan, V., Middha, S., Enepekides, D., Casadei, G. P., Solaroli, E., Tallini, G., Ghossein, R., Ganly, I. (2019) Outcome and molecular characteristics of non-invasive encapsulated follicular variant of papillary thyroid carcinoma with oncocytic features Endocrine . 64 (1): 97-108 .