Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.T4392M
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DNAH11

NM_001277115.2:p.T4392M

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

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Xia H et al.

Plos One, 2021

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

Dougherty GW et al.

American Journal of Respiratory Cell and Molecular Biology, 2016

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