Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.Y859*
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CCDC39

NM_181426.2:p.Y859*

Associated Papers

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

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

Blanchon S et al.

Journal of Medical Genetics, 2012

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

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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."