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p.Phe508del
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Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries
2010 |
Second Faculty of Medicine
publication
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
2022 |
Second Faculty of Medicine
publication
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G
2020 |
Second Faculty of Medicine
publication
Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
2011 |
Second Faculty of Medicine
publication
Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement
2020 |
Second Faculty of Medicine
publication
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry
2021 |
Second Faculty of Medicine