Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.L828delFs
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CCDC39

NM_181426.2:p.L828delFs

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

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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."