Peter van Mourik

29 R117H function and VX-770 response in organoids 17. Cui, G. et al. VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level. Sci. Rep. 9 , 13460 (2019). 18. Niksic, M., Romano, M., Buratti, E., Pagani, F. & Baralle, F. E. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum. Mol. Genet. 8 , 2339–49 (1999). 19. Cordovado, S. K. et al. CFTR mutation analysis and haplotype associations in CF patients. Mol. Genet. Metab. 105 , 249–254 (2012). 20. Kiesewetter, S. et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat. Genet. 5 , 274–278 (1993). 21. Peckham, D., Conway, S. P., Morton, A., Jones, A. & Webb, K. Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. 5 , 63–65 (2006). 2