Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.Q512_I513Splc
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EXT1

NM_000127.3:p.Q512_I513Splc

Associated Papers

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

Zuntini M et al.

Oncogene, 2010

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Pedrini E et al.

Human Mutation, 2005

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

Dobson-Stone C et al.

European Journal of Human Genetics : Ejhg, 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."