Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.V497V
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EXT1

NM_000127.3:p.V497V

Associated Papers

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

Raskind WH et al.

Human Mutation, 1998

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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."