Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R227*
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EXT1

NM_000127.3:p.R227*

Associated Papers

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Kojima H et al.

Genetic Testing, 2008

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.

Seki H et al.

American Journal of Medical Genetics, 2001

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

Bernard MA et al.

Cell Motility and the Cytoskeleton, 2001

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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."