Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.K639E
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EZH2

NM_004456.5:p.K639E

Associated Papers

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1

Structural context of disease-associated mutations and putative mechanism of autoinhibition revealed by X-ray crystallographic analysis of the EZH2-SET domain.

Antonysamy S et al.

Plos One, 2013

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K et al.

Oncotarget, 2011

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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."