Varaico: Literature-Extracted Genetic Variants

Gene:ODAD4
Variant:p.S133Splc
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ODAD4

NM_031421.5:p.S133Splc

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

Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.

Schramm A et al.

Frontiers in Molecular Biosciences, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."