Associated Papers
Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.
Urbanski AH et al.
Journal of Medical Virology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors.
Zadorozhny A et al.
Bioinformatics (oxford, England), 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
Mekki C et al.
Genes, 2021
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Pereira SV et al.
Scientific Reports, 2019
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
Xie Y et al.
The Clinical Respiratory Journal, 2017
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
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Hantash FM et al.
Human Genetics, 2006
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
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
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH et al.
Annals of Saudi Medicine, 0