Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.L152R
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EXT2

NM_207122.2:p.L152R

Associated Papers

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

Ishimaru D et al.

Bmc Genetics, 2016

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

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.

Duncan G et al.

The Journal of Clinical Investigation, 2001

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W et al.

Human Mutation, 2000

Mutation analysis of hereditary multiple exostoses in the Chinese.

Xu L et al.

Human Genetics, 0

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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."