Varaico: Literature-Extracted Genetic Variants

Gene:ODAD4
Variant:p.D207delFs
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ODAD4

NM_031421.5:p.D207delFs

Associated Papers

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.

Bourassa MH et al.

Cells, 2025

41002425 (PubMed )
Supplement: cells-14-01460-s001.zip › Supplementary_Materials.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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