Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.L255P
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EXT2

NM_207122.2:p.L255P

Associated Papers

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Yang A et al.

Annals of Human Genetics, 2019

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

Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.

Hameetman L et al.

The Journal of Pathology, 2007

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Lonie L et al.

Human Mutation, 2006

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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."