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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC39

Variant:p.E310_L311Splc

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CCDC39

NM_181426.2:p.E310_L311Splc

hg38:chr3:180654760 A>T

Associated Papers

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

Abdelhamed Z et al.

Development (cambridge, England), 2018

29317443 (PubMed )

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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."