Associated Papers
Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.
Bu H et al.
Bmc Pediatrics, 2025
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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Qu X et al.
Scientific Reports, 2023
36604502 (PubMed )
Supplement: 41598_2022_26384_MOESM1_ESM.xlsx › clinical_information
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
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
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.
Qiu L et al.
Frontiers of Medicine, 2018
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V et al.
Human Mutation, 2003
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