Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677473 (PubMed )
Supplement: media-1.xlsx › ST3
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
38153325 (PubMed )
Supplement: supplement_1.docx
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
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
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST et al.
Genes, 2021
Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature.
Beyzaei Z et al.
Bmc Medical Genomics, 2021
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
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 › INHOUSE_CFTR
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Grangeia A et al.
Pulmonology, 0
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.
Karimi N et al.
Journal of Reproduction & Infertility, 0
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