Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.R299H
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EXT2

NM_207122.2:p.R299H

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.

Hu Y et al.

Iscience, 2024

39319271 (PubMed )
Supplement: mmc5.xlsx › Table_S4

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

Gu GL et al.

World Journal of Gastroenterology, 2021

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

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

Liang C et al.

Orthopaedic Surgery, 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_2

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.

Cousminer DL et al.

Bone, 2016

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

Ishimaru D et al.

Bmc Genetics, 2016

Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma.

Tsuchiya T et al.

Cancer Genetics and Cytogenetics, 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."