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Article

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

22 Jun 2023

Abstract excerpt

Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of infertility. It is often considered to be a monogenic disorder, with pathogenic variants in ~100 genes described in the literature. We sought to systematically evaluate the penetrance of variants in these genes using exome sequence data in 104,733 women from the UK Biobank, 2,231 (1.14%) of whom reported at natural menopause under...

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PMID: 37349538
DOI: 10.1038/s41591-023-02405-5

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