Varaico: Literature-Extracted Genetic Variants

Gene:ODAD1
Variant:p.Q76*
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ODAD1

NM_144577.4:p.Q76*

Associated Papers

Recognizing clinical features of primary ciliary dyskinesia in the perinatal period.

Mapala L et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2024

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."