Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.I624fs
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CCDC39

NM_181426.2:p.I624fs

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

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Rumman N et al.

Erj Open Research, 2023

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

Wijesekara P et al.

Iscience, 2022

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Fassad MR et al.

Journal of Medical Genetics, 2020

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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."