Varaico: Literature-Extracted Genetic Variants

Gene:CCDC186
Variant:p.R179*
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CCDC186

NM_018017.4:p.R179*

Associated Papers

Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature.

Gezdirici A et al.

Brain & Development, 2025

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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."