Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.G56fs
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CCNO

NM_021147.5:p.G56fs

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

The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings.

Alhalabi O 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

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

Amirav I et al.

Human Mutation, 2016

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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."