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dc.contributor.authorMurray, A
dc.contributor.authorPerry, J
dc.date.accessioned2023-08-08T07:40:57Z
dc.date.issued2023-07-03
dc.date.updated2023-08-07T08:18:25Z
dc.description.abstractWe investigated the presence of genetic variants for 105 genes previously associated with premature ovarian insufficiency (POI) in over 100,000 women. We found that predicted damaging variants in these genes were commonly found in the heterozygous state in women that had menopause within the normal age range. This suggests that monogenic causes of POI are rare, and that POI is more likely to be a polygenic disorder.en_GB
dc.format.extent1617-1618
dc.format.mediumPrint
dc.identifier.citationVol. 29(7), pp. 1617-1618en_GB
dc.identifier.doihttps://doi.org/10.1038/s41591-023-02413-5
dc.identifier.urihttp://hdl.handle.net/10871/133730
dc.identifierORCID: 0000-0002-2351-2522 (Murray, Anna)
dc.identifierScopusID: 57215409372 (Murray, Anna)
dc.language.isoenen_GB
dc.publisherNature Researchen_GB
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pubmed/37400641en_GB
dc.rights.embargoreasonUnder embargo until 3 January 2024 in compliance with publisher policyen_GB
dc.rights© The author(s) 2023en_GB
dc.titleGenes linked to premature ovarian insufficiency show no pathogenicity in the general populationen_GB
dc.typeArticleen_GB
dc.date.available2023-08-08T07:40:57Z
dc.identifier.issn1078-8956
exeter.place-of-publicationUnited States
dc.descriptionThis is the author accepted manuscript. The final version is available from Nature Research via the DOI in this recorden_GB
dc.descriptionThis is a summary of: Shekari, S. et al. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat. Med. https://doi.org/10.1038/s41591-023-02405-5 (2023).en_GB
dc.identifier.eissn1546-170X
dc.identifier.journalNature Medicineen_GB
dc.relation.ispartofNat Med, 29(7)
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserveden_GB
rioxxterms.versionAMen_GB
rioxxterms.licenseref.startdate2023-07-03
rioxxterms.typeJournal Article/Reviewen_GB
refterms.dateFCD2023-08-08T07:37:24Z
refterms.versionFCDAM
refterms.panelAen_GB
refterms.dateFirstOnline2023-07-03


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