Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.M134T
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EZH2

NM_004456.5:p.M134T

Associated Papers

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Deevy O et al.

Genes & Development, 2025

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Mosnier C et al.

Blood Advances, 2025

39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Cyrus S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

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

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."