Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.E1949fs
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CCDC88C

NM_001080414.4:p.E1949fs

Associated Papers

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Marguet F et al.

Acta Neuropathologica Communications, 2021

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Wallis M et al.

European Journal of Medical Genetics, 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."