MITOMAP References for Mutation G-A at 8959

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1 29307858 2019 Larson, A. A., Balasubramaniam, S., Christodoulou, J., Burrage, L. C., Marom, R., Graham, B. H., Diaz, G. A., Glamuzina, E., Hauser, N., Heese, B., Horvath, G., Mattman, A., van Karnebeek, C., Lane Rutledge, S., Williamson, A., Estrella, L., Van Hove, J. K. L., Weisfeld-Adams, J. D. (2019) Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 Mitochondrion . 44 (): 58-64 .
2 29480377 2018 Finsterer, J., Zarrouk-Mahjoub, S. (2018) Phenotypic manifestations of the m.8969G>A variant Neurogenetics . 19 (2): 131-132 .