Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.E117V
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DNAH11

NM_001277115.2:p.E117V

Associated Papers

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

Namavarian A et al.

Molecular Genetics & Genomic Medicine, 2020

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Raidt J et al.

The European Respiratory Journal, 2014

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Knowles MR et al.

Thorax, 2012

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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."