MITOMAP References for Variant T14674G at 14674

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Index PMID Date Reference
1 21194154 2010 Mimaki, M., Hatakeyama, H., Komaki, H., Yokoyama, M., Arai, H., Kirino, Y., Suzuki, T., Nishino, I., Nonaka, I., Goto, Y. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study Annals of Neurology . 68 (6): 845-854 .
2 23814040 2013 Boczonadi, V., Smith, P. M., Pyle, A., Gomez-Duran, A., Schara, U., Tulinius, M., Chinnery, P. F., Horvath, R. (2013) Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency Human Molecular Genetics . 22 (22): 4602-4615 .
3 25407320 2015 Boczonadi, V., Bansagi, B., Horvath, R. (2015) Reversible infantile mitochondrial diseases Journal of Inherited Metabolic Disease . 38 (3): 427-435 .