CFAP54 and primary ciliary dyskinesia: Our functional validation not only fills the evidence gap for the CFAP54:c.6965 + 5G > A variant but also brings the total number of reported CFAP54-associated PCD patients to 8 and the number of distinct mutations to 12 (18–20), thereby enriching the genotypic and phenotypic spectrum of this gene Furthermore, by identifying a pathogenic variant through the reanalysis of initially negative ES data, this study highlights the pivotal role of reanalyzing ES data in combination with functional experiments to resolve diagnostic dilemmas in clinically suspected cases.