Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.Y592*
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EXT1

NM_000127.3:p.Y592*

Associated Papers

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate.

Xian C et al.

Genetics and Molecular Biology, 2021

Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.

Kang QL et al.

Archives of Medical Research, 2013

Genotype-phenotype correlation in hereditary multiple exostoses.

Francannet C et al.

Journal of Medical Genetics, 2001

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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."