Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.Q321*
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CCNO

NM_021147.5:p.Q321*

Associated Papers

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

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

Amirav I et al.

Human Mutation, 2016

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Marshall CR et al.

G3 (bethesda, Md.), 2015

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

Wallmeier J et al.

Nature Genetics, 2014

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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."