Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.L83insFs
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CCNO

NM_021147.5:p.L83insFs

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

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.

Guo T et al.

Scientific Reports, 2017

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