Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.S2169L
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DNAH11

NM_001277115.2:p.S2169L

Associated Papers

Genetic Characterization of Primary Ciliary Dyskinesia in a Consanguineous Population: Insights From the Largest Middle Eastern Cohort.

Al Adawi K et al.

Pediatric Pulmonology, 2025

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A et al.

The European Respiratory Journal, 2021

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.

Shoemark A et al.

The European Respiratory Journal, 2018

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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."