Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF6
Variant:p.V143_A144Splc
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DNAAF6

NM_173494.2:p.V143_A144Splc

Associated Papers

Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.

Zhang X et al.

Frontiers in Pharmacology, 2025

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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