Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.S344F
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EXT1

NM_000127.3:p.S344F

Associated Papers

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Fusco C et al.

Human Molecular Genetics, 2019

Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.

Mooij HL et al.

Journal of the American Heart Association, 2014

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."