Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.I624delFs
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CCDC39

NM_181426.2:p.I624delFs

Associated Papers

Ciliopathy organoid models: a comprehensive review.

Kuzinska MZ et al.

American Journal of Physiology. Cell Physiology, 2024

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 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."