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Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.

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Title: Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.
Authors: Railean V; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal., Rodrigues CS; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal., Pankonien I; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal., Ramalho SS; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal., Silva IAL; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal.; S2AQUAcoLAB, EPPO, Olhão, Portugal., Doušová T; Department of Paediatrics, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic., Castanhinha S; Paediatric Pulmonology Unit, Department of Paediatrics, Dona Estefânia Hospital, Central Lisboa University Hospital Centre, Lisbon, Portugal., Azevedo P; Cystic Fibrosis Reference Centre, Santa Maria Hospital, Lisboa North Hospital Centre EPE, Lisbon, Portugal., Roda J; Paediatric Gastroenterology and Nutrition Unit, Paediatric Hospital, Coimbra Hospital and University Centre, Coimbra, Portugal., Farinha CM; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal. cmfarinha@fc.ul.pt., Amaral MD; BioISI-Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisbon, Portugal. mdamaral@fc.ul.pt.
Source: Molecular diagnosis & therapy [Mol Diagn Ther] 2026 Jan; Vol. 30 (1), pp. 111-136. Date of Electronic Publication: 2025 Sep 13.
Publication Type: Journal Article
Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1179-2000
DOI:10.1007/s40291-025-00806-5