Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.C388Y
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DNAI1

NM_012144.4:p.C388Y

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

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.

Takeuchi K et al.

Molecular Genetics & Genomic Medicine, 2020

31960620 (PubMed )
Supplement: MGG3-8-e1137-s003.xlsx › Sheet1

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.

Inaba A et al.

Bmc Pulmonary Medicine, 2019

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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."