Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.F1044fs
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CCDC40

NM_017950.4:p.F1044fs

Associated Papers

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Wilken A et al.

Cells, 2024

39056782 (PubMed )
Supplement: cells-13-01200-s001.zip › cells-3014467-supplementary.pdf

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

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Raidt J et al.

The European Respiratory Journal, 2014

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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."