Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.K617_H618Splc
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EZH2

NM_004456.5:p.K617_H618Splc

Associated Papers

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

Single-Nucleotide Variations, Insertions/Deletions and Copy Number Variations in Myelodysplastic Syndrome during Disease Progression Revealed by a Single-Cell DNA Sequencing Platform.

Lee P et al.

International Journal of Molecular Sciences, 2022

35563039 (PubMed )
Supplement: ijms-23-04647-s001.zip › Supplemental_file_S5.xlsx › Supp_Table_S3

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM et al.

International Journal of Molecular Sciences, 2021

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s010.xlsx › Sheet1

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Suarez-Kelly LP et al.

Cold Spring Harbor Molecular Case Studies, 2018

29449315 (PubMed )
Supplement: supp_mcs.a002352_Supplemental_Table_3.xls › SuppTable3.modified.20171216

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Smetana J et al.

Molecular Cytogenetics, 2018

29375670 (PubMed )
Supplement: 13039_2018_357_MOESM2_ESM.xlsx › variants

EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.

Sanpaolo E et al.

Endocrine, 2016

Mutation screen and association study of EZH2 as a susceptibility gene for aggressive prostate cancer.

Bachmann N et al.

The Prostate, 2005

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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."