Varaico: Literature-Extracted Genetic Variants

Gene:DNAH5
Variant:p.Q2723*
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DNAH5

NM_001369.3:p.Q2723*

Associated Papers

Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.

Brody SL et al.

Biorxiv : the Preprint Server for Biology, 2024

38562900 (PubMed )
Supplement: NIHPP2024.03.20.585965v1-supplement-2.pdf

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Failly M et al.

Journal of Medical Genetics, 2009

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N et al.

American Journal of Respiratory and Critical Care Medicine, 2006

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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."