Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R280G
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EXT1

NM_000127.3:p.R280G

Associated Papers

Structural basis for heparan sulfate co-polymerase action by the EXT1-2 complex.

Li H et al.

Nature Chemical Biology, 2023

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

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

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Cheung PK et al.

American Journal of Human Genetics, 2001

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W et al.

Human Mutation, 2000

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W et al.

American Journal of Human Genetics, 1998

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

Raskind WH et al.

Human Mutation, 1998

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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."