Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.T40delFs
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EXT2

NM_207122.2:p.T40delFs

Associated Papers

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.

Wang W et al.

Molecular Medicine Reports, 2022

Identification of a novel frameshift mutation of the EXT2 gene in a family with multiple osteochondroma.

Xia P et al.

Oncology Letters, 2016

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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."