Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.Q906*
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CCDC40

NM_017950.4:p.Q906*

Associated Papers

Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis.

Kahraman FU et al.

Birth Defects Research, 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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