Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.T277fs
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CCDC39

NM_181426.2:p.T277fs

Associated Papers

Ciliopathy organoid models: a comprehensive review.

Kuzinska MZ et al.

American Journal of Physiology. Cell Physiology, 2024

Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.

Brody SL et al.

Biorxiv : the Preprint Server for Biology, 2024

38562900 (PubMed )
Supplement: NIHPP2024.03.20.585965v1-supplement-2.pdf

Engineering rotating apical-out airway organoid for assessing respiratory cilia motility.

Wijesekara P et al.

Iscience, 2022

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.

Liu Z et al.

Science Translational Medicine, 2020

32188719 (PubMed )
Supplement: aay0071_data_file_s1.xlsx › PCD

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.

Cannarella R et al.

Frontiers in Genetics, 2020

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Antony D et al.

Human Mutation, 2013

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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."