Varaico: Literature-Extracted Genetic Variants

Gene:EXTL3
Variant:p.V490delFs
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EXTL3

NM_001440.4:p.V490delFs

Associated Papers

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

Liang C et al.

Orthopaedic Surgery, 2020

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

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.

Jennes I et al.

The Journal of Molecular Diagnostics : Jmd, 2008

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."