Associated Papers
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
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International Journal of Molecular Sciences, 2025
A novel pathogenic variant of CFAP221 is a cause of a mild form of primary ciliary dyskinesia.
Rabiasz A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
Wohlgemuth K et al.
The European Respiratory Journal, 2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
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