Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.R485*
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RSPH4A

NM_001010892.3:p.R485*

Associated Papers

Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.

Nussstein H et al.

The European Respiratory Journal, 2026

40967762 (PubMed )
Supplement: ERJ-00616-2025.Supplement.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

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Baz-Redón N et al.

Archivos De Bronconeumologia, 2021

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Baz-Redón N et al.

Journal of Clinical Medicine, 2020

33182294 (PubMed )
Supplement: jcm-09-03603-s001.pdf
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