Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.N693K
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EZH2

NM_004456.5:p.N693K

Associated Papers

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.

Sollier E et al.

Nature Communications, 2023

Immunohistochemical loss of enhancer of Zeste Homolog 2 (EZH2) protein expression correlates with EZH2 alterations and portends a worse outcome in myelodysplastic syndromes.

Sakhdari A et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Transient expansion of TP53 mutated clones in polycythemia vera patients treated with idasanutlin.

Marcellino BK et al.

Blood Advances, 2020

ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.

Fontana D et al.

Nature Communications, 2020

33230096 (PubMed )
Supplement: 41467_2020_19721_MOESM9_ESM.xlsx › Sheet1

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia.

Stasik S et al.

Haematologica, 2020

Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia.

Bidet A et al.

Haematologica, 2019

Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes.

Takahashi K et al.

Nature Communications, 2018

29991687 (PubMed )
Supplement: 41467_2018_4924_MOESM1_ESM.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."