Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF11
Variant:p.E79_K80del2
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DNAAF11

NM_012472.6:p.E79_K80del2

Associated Papers

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.

Zlotina A et al.

Orphanet Journal of Rare Diseases, 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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