Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.S478fs
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EXT1

NM_000127.3:p.S478fs

Associated Papers

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Caino S et al.

Genes, 2022

[Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis].

You Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Li Y et al.

Medicine, 2018

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

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M et al.

Gene, 2013

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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."