Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.D82insFs
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EXT2

NM_207122.2:p.D82insFs

Associated Papers

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 mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.

Liu SG et al.

Genetic Testing, 2008

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

Wuyts W et al.

Human Mutation, 2000

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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."