Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.A3V
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EXT2

NM_207122.2:p.A3V

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s002.xlsx › Sheet1

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.

Liang C et al.

Orthopaedic Surgery, 2020

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Germline

Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Zhao Q et al.

Cancer Cell International, 2020

32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.

Guo XL et al.

Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014

Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.

Kang Z et al.

Gene, 2012

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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."