A systematic review on the biochemical threshold of mitochondrial genetic variants

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Figure 9.
Figure 9.

Association of m.8993T > G VAF with complex V activity. The VAF for the m.8993T > G variant in MT-ATP6 correlated with the percent residual complex V activity in skeletal muscle (A; τ = −0.58, P = 0.01, n = 13) but not in fibroblasts (B; τ = −0.11, P = 0.7, n = 9). However, it should be noted that the correlation in skeletal muscle is likely driven by a single case.

This Article

  1. Genome Res. 34: 341-365

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