Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.M1insFs
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DNAH11

NM_001277115.2:p.M1insFs

Associated Papers

Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations.

Umeda A et al.

Respiratory Investigation, 2025

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
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