Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'.
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| Title: | Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'. |
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| Authors: | Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Garden Suite, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK. caroline.wright@exeter.ac.uk., Beaumont RN; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Garden Suite, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK. |
| Source: | Genome medicine [Genome Med] 2025 Oct 07; Vol. 17 (1), pp. 114. Date of Electronic Publication: 2025 Oct 07. |
| Publication Type: | Letter |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41057944 AccessLevel: 2 PubType: Editorial & Opinion PubTypeId: editorialOpinion PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Wright+CF%22">Wright CF</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Garden Suite, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK. caroline.wright@exeter.ac.uk.<br /><searchLink fieldCode="AU" term="%22Beaumont+RN%22">Beaumont RN</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Garden Suite, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2025 Oct 07; Vol. 17 (1), pp. 114. <i>Date of Electronic Publication: </i>2025 Oct 07. – Name: TypePub Label: Publication Type Group: TypPub Data: Letter – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE; In Process |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41057944 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-025-01544-3 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 114 Titles: – TitleFull: Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Wright CF – PersonEntity: Name: NameFull: Beaumont RN IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 10 Text: 2025 Oct 07 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1756-994X Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Genome medicine Type: main |
| ResultId | 1 |
