Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.
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| Title: | Limited penetrance of dominantly inherited AIRE variants in a population-based cohort. |
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| Authors: | Ramchand SN; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Leech JM; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Sharp LN; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Bonfield G; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Luckett AM; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Weedon MN; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Patel KA; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Hawkes G; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom., Johnson MB; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom. |
| Source: | Human molecular genetics [Hum Mol Genet] 2026 Jun 09; Vol. 35 (11). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42262224 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Limited penetrance of dominantly inherited AIRE variants in a population-based cohort. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ramchand+SN%22">Ramchand SN</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Leech+JM%22">Leech JM</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sharp+LN%22">Sharp LN</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bonfield+G%22">Bonfield G</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Luckett+AM%22">Luckett AM</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Weedon+MN%22">Weedon MN</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Patel+KA%22">Patel KA</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hawkes+G%22">Hawkes G</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Johnson+MB%22">Johnson MB</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Barrack Road, Exeter, Devon, EX2 5NA, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2026 Jun 09; Vol. 35 (11). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42262224 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/hmg/ddag047 Languages: – Code: eng Text: English Titles: – TitleFull: Limited penetrance of dominantly inherited AIRE variants in a population-based cohort. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ramchand SN – PersonEntity: Name: NameFull: Leech JM – PersonEntity: Name: NameFull: Sharp LN – PersonEntity: Name: NameFull: Bonfield G – PersonEntity: Name: NameFull: Luckett AM – PersonEntity: Name: NameFull: Weedon MN – PersonEntity: Name: NameFull: Patel KA – PersonEntity: Name: NameFull: Hawkes G – PersonEntity: Name: NameFull: Johnson MB IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 06 Text: 2026 Jun 09 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1460-2083 Numbering: – Type: volume Value: 35 – Type: issue Value: 11 Titles: – TitleFull: Human molecular genetics Type: main |
| ResultId | 1 |
