Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.Y411S
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DNAI1

NM_012144.4:p.Y411S

Associated Papers

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

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Raidt J et al.

Annals of the American Thoracic Society, 2022

35202559 (PubMed )
Supplement: raidt_data_supplement.pdf

Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry.

Nyilas S et al.

Annals of the American Thoracic Society, 2018

30290127 (PubMed )
Supplement: nyilas_data_supplement.pdf
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