Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.N73delFs
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EXT1

NM_000127.3:p.N73delFs

Associated Papers

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Gnoli M et al.

Orphanet Journal of Rare Diseases, 2024

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A et al.

Journal of Applied Genetics, 2014

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.

Zuntini M et al.

Oncogene, 2010

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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."