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Pedigrees of families carrying the m.7501T > A variant. (A-F) Pedigrees of three families carrying the homoplasmic m.7501T > A, and audiograms of the probands (A and B, C and D, E and F). (G,H) Predicted secondary structure of the tRNASer(UCN) transcript (G) and the tRNASer(UCN) with m.7501T > A (H). Because the gene is transcribed in the reverse direction, thymine at 7501 (G) and adenine (H) are indicated as a and u, respectively (bold arrows).
