MITOMAP References for RNA Mutation A2156AA

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Index PMID Date Reference
1 7723627 1995 Ikebe, S., Tanaka, M., Ozawa, T. (1995) Point mutations of mitochondrial genome in Parkinson's disease Molecular Brain Research . 28 (2): 281-295 .
2 16895436 2006 Kazuno, A. A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A., Kato, T. (2006) Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics PLoS Genetics . 2 (8): e128 .
3 16714301 2006 Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 .
4 29343773 2018 Koh, H., Park, G. S., Shin, S. M., Park, C. E., Kim, S., Han, S. J., Pham, H. Q., Shin, J. H., Lee, D. W. (2018) Mitochondrial mutations in cholestatic liver disease with biliary atresia Scientific Reports . 8 (1): 905 .
5 22333566 2012 Bodner, M., Perego, U. A., Huber, G., Fendt, L., Rock, A. W., Zimmermann, B., Olivieri, A., Gomez-Carballa, A., Lancioni, H., Angerhofer, N., Bobillo, M. C., Corach, D., Woodward, S. R., Salas, A., Achilli, A., Torroni, A., Bandelt, H. J., Parson, W. (2012) Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes Genome Research . 22 (5): 811-820 .
6 33504965 2021 Park, J., Kang, E., Kang, S., Kim, D., Kim, D., Park, S. J., Jhang, W. K. (2021) Mitochondrial gene mutations in pediatric septic shock Pediatric Research . ePub ahead of print, http://doi.org/10.1038/s41390-020-01358-6 (): .
7 NA 2016 van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb .
8 NA 2021 Notation from curator. (2021) . This is an insertion in a polytract . Various modes of annotation exist (position reported inconsistently in the literature): insertions at 5' start of polytract are redirected to the position at 3'end .