Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.W548*
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DNAI1

NM_012144.4:p.W548*

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.

Liu Z et al.

Science Translational Medicine, 2020

32188719 (PubMed )
Supplement: aay0071_data_file_s1.xlsx › PCD

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA et al.

American Journal of Respiratory and Critical Care Medicine, 2006

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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."