Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.G339V
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EXT1

NM_000127.3:p.G339V

Associated Papers

Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.

Tong Y et al.

Genetic Testing and Molecular Biomarkers, 2021

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Pedrini E et al.

Human Mutation, 2005

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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."