MITOMAP References for Mutation T-C at 8777

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1 38755691 2024 Sala, D., Marchet, S., Nanetti, L., Legati, A., Mariotti, C., Lamantea, E., Ghezzi, D., Catania, A., Lamperti, C. (2024) A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies Orphanet Journal of Rare Diseases . 19 (1): 200 .