Varaico: Literature-Extracted Genetic Variants

Gene:RSPH1
Variant:p.Q145*
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RSPH1

NM_080860.4:p.Q145*

Associated Papers

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

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A et al.

American Journal of Respiratory Cell and Molecular Biology, 2015

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

Raidt J et al.

The European Respiratory Journal, 2014

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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."