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Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids.
Lefferts JW, Boersma V, Nieuwenhuijze NDA, Suen SWF, Hajo K, Collantes NS, Vermeulen C, Groeneweg T, Hagemeijer MC, de Jonge HR, van der Ent CK, Splinter E, Beekman JM. Lefferts JW, et al. Among authors: groeneweg t. J Cyst Fibros. 2023 May;22(3):538-547. doi: 10.1016/j.jcf.2023.04.003. Epub 2023 Apr 24. J Cyst Fibros. 2023. PMID: 37100706
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D, Kleinfelder K, Ciciriello F, Groeneweg TA, De Marchi G, de Pretis N, Bernardoni L, Rodella L, Tomba F, De Angelis P, Surace C, Pintani E, Alghisi F, de Jonge HR, Melotti P, Sorio C, Lucidi V, Bijvelds MJC, Frulloni L. Angyal D, et al. Among authors: groeneweg ta. Pancreatology. 2024 May;24(3):394-403. doi: 10.1016/j.pan.2024.03.005. Epub 2024 Mar 10. Pancreatology. 2024. PMID: 38493004 Free article.