Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.Q555_D556Splc
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CCDC39

NM_181426.2:p.Q555_D556Splc

Associated Papers

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.

AbdulWahab A et al.

Clinical Genetics, 2025

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.

Legebeke J et al.

Human Molecular 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
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