Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.M215_T223Fs
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EXT1

NM_000127.3:p.M215_T223Fs

Associated Papers

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis.

Hall CR et al.

American Journal of Medical Genetics, 2002

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

Bernard MA et al.

Cell Motility and the Cytoskeleton, 2001

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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."