Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.I914insFs
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CCDC40

NM_017950.4:p.I914insFs

Associated Papers

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Kondratyeva EI et al.

International Journal of Molecular Sciences, 2025

41373829 (PubMed )
Supplement: ijms-26-11674-s001.zip › ijms-4008327-supplementary.pdf

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

Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.

Pifferi M et al.

Annals of the American Thoracic Society, 2021

33760720 (PubMed )
Supplement: pifferi_data_supplement.pdf
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