Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R346S
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EXT1

NM_000127.3:p.R346S

Associated Papers

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.

Xu Y et al.

Molecular Medicine Reports, 2017

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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."