MITOMAP References for Variant G583A at 583

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PMID Reference
9771776 Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity Journal of Neurology, Neurosurgery and Psychiatry . 65 (4): 512-517 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
16806928 Darin, N., Kollberg, G., Moslemi, A. R., Tulinius, M., Holme, E., Gronlund, M. A., Andersson, S., Oldfors, A. (2006) Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene Neuromuscular Disorders . 16 (8): 504-506 .
19718780 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .