| dc.contributor.author | Murray, A | |
| dc.contributor.author | Perry, J | |
| dc.date.accessioned | 2023-08-08T07:40:57Z | |
| dc.date.issued | 2023-07-03 | |
| dc.date.updated | 2023-08-07T08:18:25Z | |
| dc.description.abstract | We 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.extent | 1617-1618 | |
| dc.format.medium | Print | |
| dc.identifier.citation | Vol. 29(7), pp. 1617-1618 | en_GB |
| dc.identifier.doi | https://doi.org/10.1038/s41591-023-02413-5 | |
| dc.identifier.uri | http://hdl.handle.net/10871/133730 | |
| dc.identifier | ORCID: 0000-0002-2351-2522 (Murray, Anna) | |
| dc.identifier | ScopusID: 57215409372 (Murray, Anna) | |
| dc.language.iso | en | en_GB |
| dc.publisher | Nature Research | en_GB |
| dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/37400641 | en_GB |
| dc.rights.embargoreason | Under embargo until 3 January 2024 in compliance with publisher policy | en_GB |
| dc.rights | © The author(s) 2023 | en_GB |
| dc.title | Genes linked to premature ovarian insufficiency show no pathogenicity in the general population | en_GB |
| dc.type | Article | en_GB |
| dc.date.available | 2023-08-08T07:40:57Z | |
| dc.identifier.issn | 1078-8956 | |
| exeter.place-of-publication | United States | |
| dc.description | This is the author accepted manuscript. The final version is available from Nature Research via the DOI in this record | en_GB |
| dc.description | This 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.eissn | 1546-170X | |
| dc.identifier.journal | Nature Medicine | en_GB |
| dc.relation.ispartof | Nat Med, 29(7) | |
| dc.rights.uri | http://www.rioxx.net/licenses/all-rights-reserved | en_GB |
| rioxxterms.version | AM | en_GB |
| rioxxterms.licenseref.startdate | 2023-07-03 | |
| rioxxterms.type | Journal Article/Review | en_GB |
| refterms.dateFCD | 2023-08-08T07:37:24Z | |
| refterms.versionFCD | AM | |
| refterms.dateFOA | 2024-01-03T00:00:00Z | |
| refterms.panel | A | en_GB |
| refterms.dateFirstOnline | 2023-07-03 | |
