Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.G3523Splc
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DNAH11

NM_001277115.2:p.G3523Splc

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

Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4-year-old child: A case report.

Li L et al.

Pediatric Pulmonology, 2023

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Boon M et al.

Orphanet Journal of Rare Diseases, 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."