Associated Papers
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1
[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].
Lay-Son R G et al.
Revista Chilena De Pediatria, 2014
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.
Ramalho AS et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2009
N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.
Gené GG et al.
Human Mutation, 2008
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Alonso MJ et al.
Annals of Human Genetics, 2007
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
Pagani F et al.
The Journal of Biological Chemistry, 2003
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
Casals T et al.
Human Reproduction (oxford, England), 2000
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
Estivill X et al.
Human Mutation, 1997
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