Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.V90fs
Back to variants list

CCNO

NM_021147.5:p.V90fs

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

Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.

Henriques AR et al.

Pediatric Pulmonology, 2021

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
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."