MITOMAP References for Mutation A-G at 8691

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Index PMID Date Reference
1 26053701 2015 Hao, X., Liu, S., Wu, X., Hao, Y., Chen, Y. (2015) Infantile mitochondrial disorder associated with subclinical hypothyroidism is caused by a rare mitochondrial DNA 8691A>G mutation: a case report Neuroreport . 26 (10): 588-592 .
2 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .