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Article

Rare variants in FANCA induce premature ovarian insufficiency

18 Sept 2019

Abstract excerpt

Abstract Premature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects approximately 1% women under 40 years of age. Recent advances emphasize the genetic heterogeneity of POI. Fanconi anemia (FA) genes, traditionally known for their essential roles in DNA repair and cytogenetic instability, have been demonstrated to be involved in meiosis and germ cell development. Here, we...

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PMID: 31535215
DOI: 10.1007/s00439-019-02059-9

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