Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R346K
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EXT1

NM_000127.3:p.R346K

Associated Papers

The new bone biology: pathologic, molecular, and clinical correlates.

Cohen MM

American Journal of Medical Genetics. Part A, 2006

Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.

Wei G et al.

The Journal of Biological Chemistry, 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."