Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R341delFs
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EXT1

NM_000127.3:p.R341delFs

Associated Papers

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Lonie L et al.

Human Mutation, 2006

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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."