Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.D164H
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EXT1

NM_000127.3:p.D164H

Associated Papers

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

Li H et al.

Nature Chemical Biology, 2023

Peripheral chondrosarcoma progression is associated with increased type X collagen and vascularisation.

de Andrea CE et al.

Virchows Archiv : an International Journal of Pathology, 2012

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

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV et al.

American Journal of Human Genetics, 1999

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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."