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.
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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ISSN:1744-4292
DOI:10.1038/s44320-024-00043-8