Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.R96*
Back to variants list

CCDC39

NM_181426.2:p.R96*

Associated Papers

Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations.

Bharti N et al.

Nature Communications, 2024

38580646 (PubMed )
Supplement: 41467_2024_47258_MOESM1_ESM.pdf

Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia.

Keiser NW et al.

Human Gene Therapy, 2023

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome.

Shi X et al.

Biomed Research International, 2022

A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep.

Ben Braiek M et al.

Genes, 2021

AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease.

Hug P et al.

Genes, 2019

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille AC et al.

Nature Genetics, 2011

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."