Associated Papers
Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia.
Li Y et al.
Frontiers in Medicine, 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
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