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. |
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| 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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| ISSN: | 1553-7404 |
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| DOI: | 10.1371/journal.pgen.1011907 |
