MITOMAP References for Variant C-T at 12848

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Index PMID Date Reference
1 16240359 2005 Mayorov, V., Biousse, V., Newman, N. J., Brown, M. D. (2005) The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation Annals of Neurology . 58 (5): 807-811 .
2 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 .
3 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .