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Article

Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency

1 Nov 2023

Abstract excerpt

STUDY QUESTION: Are variants of genes involved in meiosis initiation responsible for premature ovarian insufficiency (POI)? SUMMARY ANSWER: A MEIOSIN variant participates in the pathogenesis of human POI by impairing meiosis due to insufficient transcriptional activation of essential meiotic genes. WHAT IS KNOWN ALREADY: Meiosis is the key event for the establishment of the ovarian reserve, and several gene...

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PMID: 37982418
DOI: 10.1093/humrep/dead084

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