Varaico: Literature-Extracted Genetic Variants

Gene:ODAD2
Variant:p.L927W
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ODAD2

NM_018076.5:p.L927W

Associated Papers

Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.

Karakoç E et al.

Journal of Clinical Medicine, 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

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Raidt J et al.

The European Respiratory Journal, 2014

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

Hjeij R et al.

American Journal of Human Genetics, 2013

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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."