Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.L187delFs
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EXT2

NM_207122.2:p.L187delFs

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

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

A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas.

Chen Z et al.

Oncology Letters, 2018

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.

Guo X et al.

The Tohoku Journal of Experimental Medicine, 2017

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

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Pei Y et al.

Genetic Testing and Molecular Biomarkers, 2010

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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."