Varaico: Literature-Extracted Genetic Variants

Gene:DNAH5
Variant:p.G3519R
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DNAH5

NM_001369.3:p.G3519R

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

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

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H et al.

Nature Genetics, 2002

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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."