Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.R247*
Back to variants list

DNAI2

NM_023036.6:p.R247*

Associated Papers

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.

Lee DDH et al.

The European Respiratory Journal, 2021

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."