Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.Q27*
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EXT1

NM_000127.3:p.Q27*

Associated Papers

Identification of novel germline mutations in FUT7 and EXT1 linked with hereditary multiple exostoses.

Peng W et al.

Oncogene, 2025

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

Ishimaru D et al.

Bmc Genetics, 2016

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

Kang QL et al.

Archives of Medical Research, 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."