Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R340P
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EXT1

NM_000127.3:p.R340P

Associated Papers

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M et al.

Gene, 2013

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P et al.

Scientific Reports, 2013

[Molecular psychogenetics of deviant aggressive behavior in humans].

Vasil'ev VA

Genetika, 2011

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I et al.

Human Mutation, 2009

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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."