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Identification of pathogenic variants of LONP1 associated with premature ovarian insufficiency. (a and b) Pedigrees of the two affected families. The black circles represent the affected individuals. (c) Mutation patterns and conservation of mutated amino acids in LONP1. The green dots indicate the mutations identified in this study. All mutations were missense mutations. (d and e) Relative mtDNA copy numbers in the two affected families.
