Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.S178N
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KAT6B

NM_012330.4:p.S178N

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: mmc1.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."