Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.L490delFs
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EXT1

NM_000127.3:p.L490delFs

Associated Papers

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P et al.

Scientific Reports, 2013

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Stancheva-Ivanova MK et al.

Journal of Inherited Metabolic Disease, 2011

MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures.

Zuntini M et al.

Clinical Genetics, 2010

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I et al.

Human Mutation, 2009

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

Signori E et al.

Genes, Chromosomes & Cancer, 2007

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

Dobson-Stone C et al.

European Journal of Human Genetics : Ejhg, 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."