Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
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| Title: | Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. |
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| Authors: | McDonnell AF; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Plech M; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Livesey BJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Gerasimavicius L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Owen LJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Hall HN; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Kudla G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. gkudla@gmail.com. |
| Source: | Molecular systems biology [Mol Syst Biol] 2024 Jul; Vol. 20 (7), pp. 825-844. Date of Electronic Publication: 2024 Jun 07. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38849565 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22McDonnell+AF%22">McDonnell AF</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Plech+M%22">Plech M</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Livesey+BJ%22">Livesey BJ</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Gerasimavicius+L%22">Gerasimavicius L</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Owen+LJ%22">Owen LJ</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Hall+HN%22">Hall HN</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22FitzPatrick+DR%22">FitzPatrick DR</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Marsh+JA%22">Marsh JA</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Kudla+G%22">Kudla G</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. gkudla@gmail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235389%22">Molecular systems biology</searchLink> [Mol Syst Biol] 2024 Jul; Vol. 20 (7), pp. 825-844. <i>Date of Electronic Publication: </i>2024 Jun 07. – 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="%22EMBO+Press%22">EMBO Press </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101235389 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-4292 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217444292%22">17444292 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syst Biol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38849565 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s44320-024-00043-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 825 Titles: – TitleFull: Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: McDonnell AF – PersonEntity: Name: NameFull: Plech M – PersonEntity: Name: NameFull: Livesey BJ – PersonEntity: Name: NameFull: Gerasimavicius L – PersonEntity: Name: NameFull: Owen LJ – PersonEntity: Name: NameFull: Hall HN – PersonEntity: Name: NameFull: FitzPatrick DR – PersonEntity: Name: NameFull: Marsh JA – PersonEntity: Name: NameFull: Kudla G IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2024 Jul Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1744-4292 Numbering: – Type: volume Value: 20 – Type: issue Value: 7 Titles: – TitleFull: Molecular systems biology Type: main |
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