Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.W180*
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EXT2

NM_207122.2:p.W180*

Associated Papers

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.

Guo X et al.

Bone & Joint Research, 2025

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Al-Zayed Z et al.

Orphanet Journal of Rare Diseases, 2021

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Yang A et al.

Annals of Human Genetics, 2019

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

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Stancheva-Ivanova MK et al.

Journal of Inherited Metabolic Disease, 2011

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

Wuyts W et al.

Clinical Genetics, 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."