Associated Papers
CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype.
Chen G et al.
Annals of Human Genetics, 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
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Biebach L et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
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