Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.R684H
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EZH2

NM_004456.5:p.R684H

Associated Papers

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.

Peterlin A et al.

Life (basel, Switzerland), 2024

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_4

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Becker H et al.

Annals of Hematology, 2020

32504186 (PubMed )
Supplement: 277_2020_4082_MOESM1_ESM.pdf

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Polonis K et al.

Cold Spring Harbor Molecular Case Studies, 2018

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.

Liu D et al.

Nature Communications, 2017

29259186 (PubMed )
Supplement: 41467_2017_2320_MOESM1_ESM.pdf

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

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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."