Varaico: Literature-Extracted Genetic Variants

Gene:CCNC
Variant:p.R178K
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CCNC

NM_005190.4:p.R178K

Associated Papers

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E et al.

American Journal of Human Genetics, 2019

30905399 (PubMed )
Supplement: mmc4.pdf
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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."