Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.C85R
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EXT2

NM_207122.2:p.C85R

Associated Papers

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.

Duncan G et al.

The Journal of Clinical Investigation, 2001

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."