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Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.

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Title: Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Authors: Nunes-Xavier CE; Biobizkaia Health Research Institute, Barakaldo, Spain.; CIBERER, ISCIII, Madrid, Spain., Pallarès-Sastre M; Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain., Rodríguez-Ramos A; Biobizkaia Health Research Institute, Barakaldo, Spain.; CIBERER, ISCIII, Madrid, Spain., Bañuelos S; Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Biofisika Institute (UPV/EHU-CSIC), University of the Basque Country (UPV/EHU), Leioa, Spain., Cortajarena I; Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Biofisika Institute (UPV/EHU-CSIC), University of the Basque Country (UPV/EHU), Leioa, Spain., Cavaliere F; Achucarro Basque Center for Neuroscience, The Basque Biomodels Platform for Human Research (BBioH), Leioa, Spain.; CIBERNED, ISCIII, Madrid, Spain., Ruiz-Espinoza C; Biobizkaia Health Research Institute, Barakaldo, Spain.; Department of Pediatrics, Basurto University Hospital, Bilbao, Spain., Llano-Rivas I; Biobizkaia Health Research Institute, Barakaldo, Spain.; Department of Genetics, Cruces University Hospital, Barakaldo, Spain., García M; Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain., Amayra I; Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain., Pulido R; Biobizkaia Health Research Institute, Barakaldo, Spain.; CIBERER, ISCIII, Madrid, Spain.; Ikerbasque, The Basque Foundation for Science, Bilbao, Spain.
Source: PLoS genetics [PLoS Genet] 2025 Oct 13; Vol. 21 (10), pp. e1011907. Date of Electronic Publication: 2025 Oct 13 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
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  Data: <searchLink fieldCode="AU" term="%22Nunes-Xavier+CE%22">Nunes-Xavier CE</searchLink>; Biobizkaia Health Research Institute, Barakaldo, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pallarès-Sastre+M%22">Pallarès-Sastre M</searchLink>; Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Rodríguez-Ramos+A%22">Rodríguez-Ramos A</searchLink>; Biobizkaia Health Research Institute, Barakaldo, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bañuelos+S%22">Bañuelos S</searchLink>; Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Biofisika Institute (UPV/EHU-CSIC), University of the Basque Country (UPV/EHU), Leioa, Spain.<br /><searchLink fieldCode="AU" term="%22Cortajarena+I%22">Cortajarena I</searchLink>; Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Biofisika Institute (UPV/EHU-CSIC), University of the Basque Country (UPV/EHU), Leioa, Spain.<br /><searchLink fieldCode="AU" term="%22Cavaliere+F%22">Cavaliere F</searchLink>; Achucarro Basque Center for Neuroscience, The Basque Biomodels Platform for Human Research (BBioH), Leioa, Spain.; CIBERNED, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz-Espinoza+C%22">Ruiz-Espinoza C</searchLink>; Biobizkaia Health Research Institute, Barakaldo, Spain.; Department of Pediatrics, Basurto University Hospital, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Biobizkaia Health Research Institute, Barakaldo, Spain.; Department of Genetics, Cruces University Hospital, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22García+M%22">García M</searchLink>; Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Amayra+I%22">Amayra I</searchLink>; Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Pulido+R%22">Pulido R</searchLink>; Biobizkaia Health Research Institute, Barakaldo, Spain.; CIBERER, ISCIII, Madrid, Spain.; Ikerbasque, The Basque Foundation for Science, Bilbao, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2025 Oct 13; Vol. 21 (10), pp. e1011907. <i>Date of Electronic Publication: </i>2025 Oct 13 (<i>Print Publication: </i>2025).
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