Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.Q88insFs
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CCNO

NM_021147.5:p.Q88insFs

Associated Papers

Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.

Xu Y et al.

Cureus, 2024

Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review.

Tong L et al.

Frontiers in Pediatrics, 2024

39380637 (PubMed )
Supplement: Table1.pdf

[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing].

Shen N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."