Varaico: Literature-Extracted Genetic Variants

Gene:DNAH5
Variant:p.E2633fs
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DNAH5

NM_001369.3:p.E2633fs

Associated Papers

A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.

Yao XJ et al.

Bmc Pulmonary Medicine, 2024

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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."