Varaico: Literature-Extracted Genetic Variants

Gene:DNAH5
Variant:p.D556G
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DNAH5

NM_001369.3:p.D556G

Associated Papers

Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

Dong M et al.

Orphanet Journal of Rare Diseases, 2025

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

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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."