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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A et al.
Jci Insight, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A et al.
Biorxiv : the Preprint Server for Biology, 2023
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.
Zahid M et al.
Plos One, 2018
29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › PCDMutationsTGAPatients
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