Associated Papers
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan.
Hijikata M et al.
Clinical Genetics, 2025
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
Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia.
Hijikata M et al.
American Journal of Respiratory Cell and Molecular Biology, 2023
37260176 (PubMed )
Supplement: hijikata_data_supplement.pdf
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