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Risk of disease manifestation and blood heteroplasmy level. Estimated probability of being clinically affected based on the blood heteroplasmy level for 4 MT‐ATP6 pathogenic variants (m.8993T>C, m.8993T>G, m.9176T>C, and m.9185T>C) is illustrated. For instance, for an estimated probability of 0.5 being clinically affected, the mutant heteroplasmy appears to be the lowest in the m.8993T>G variant (54%), compared to 3 other variants m.8993T>C, m.9176T>C, and m.9185T>C (73%–78%).
