Associated Papers
Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
Ma J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1
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
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Genetic prevalence and characteristics in children with recurrent pancreatitis.
Sultan M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.
Masvidal L et al.
Genetic Testing and Molecular Biomarkers, 2009
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.
Michels M et al.
Genetics and Molecular Biology, 0
31808782 (PubMed )
Supplement: 1415-4757-GMB-42-3-2018-0148-suppl1.pdf
Select a paper to view details