Associated Papers
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
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Hjeij R et al.
American Journal of Human Genetics, 2013
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