Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.Y271C
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EXT1

NM_000127.3:p.Y271C

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

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A et al.

Journal of Applied Genetics, 2014

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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."