Associated Papers
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_MOESM3_ESM.xls › TableS2
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
33747920 (PubMed )
Supplement: DataSheet_2.xlsx › Table_S5
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.
Subaran RL et al.
Human Mutation, 2020
CFTR genotype-related body water and electrolyte balance during a marathon.
Del Coso J et al.
Scandinavian Journal of Medicine & Science in Sports, 2016
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.
Lundman E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
Kinnunen S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005
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