Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.C803Y
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CCDC39

NM_181426.2:p.C803Y

Associated Papers

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Ganesh S et al.

Psychiatry and Clinical Neurosciences, 2019

30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3

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."