Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.W200*
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EXT1

NM_000127.3:p.W200*

Associated Papers

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate.

Xian C et al.

Genetics and Molecular Biology, 2021

[Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas].

Huang XS et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.

Zuntini M et al.

Oncogene, 2010

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

Gigante M et al.

International Journal of Cancer, 2001

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

Wuyts W et al.

Human Mutation, 2000

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W et al.

American Journal of Human Genetics, 1998

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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."