Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.E1949G
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CCDC88C

NM_001080414.4:p.E1949G

Associated Papers

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Ruggeri G et al.

American Journal of Medical Genetics. Part A, 2018

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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."