Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.H303insFs
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EXT2

NM_207122.2:p.H303insFs

Associated Papers

Hereditary multiple exostoses with spine involvement in a 4-year-old boy.

Ezra N et al.

American Journal of Medical Genetics. Part A, 2010

Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations.

Bernard MA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2000

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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."