MITOMAP References for Variant T3273del at 3273

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Index PMID Date Reference
1 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
2 30701423 2019 Ozawa, K., Mochizuki, K., Manabe, Y., Yoshikura, N., Shimohata, T., Nishino, I., Goto, Y. I. (2019) Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome Documenta Ophthalmologica. Advances in Opthalmology . 138 (2): 147-152 .
3 7854527 1995 Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M. T., Kaufman, A., Dixon, J., Teichberg, S., Wallace, D. C. (1995) Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene Neurology . 45 (2): 286-292 .