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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Fig. 2

Analysis of mitochondrial DNA single nucleotide substitutions in protein genes. Very-rare, population frequency ≤ 1/100,000 (< 0.001%). A Absolute frequencies of mitochondrial DNA homoplasmic (heteroplasmic) variants. P < 0.00001 (P < 0.00001) (Fisher’s exact test). B Conservation index. Means ± Standard Deviations are shown. Asterisk, P ≤ 0.0335 (Unpaired t-test)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172