Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.L184_T185Splc
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CCDC40

NM_017950.4:p.L184_T185Splc

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

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A et al.

The European Respiratory Journal, 2021

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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