Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.C90*
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EXT2

NM_207122.2:p.C90*

Associated Papers

Patterns and mutational signatures of tandem base substitutions causing human inherited disease.

Chen JM et al.

Human Mutation, 2013

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

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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."