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Landscape of pathogenic mutations in premature ovarian insufficiency - Nature Medicine

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Landscape of pathogenic mutations in premature ovarian insufficiency - Nature Medicine

Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases.

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Landscape of pathogenic mutations in premature ovarian insufficiency - Nature Medicine

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Landscape of pathogenic mutations in premature ovarian insufficiency - Nature Medicine

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