Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.Q391_A392Splc
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EXT2

NM_207122.2:p.Q391_A392Splc

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

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate.

Xian C et al.

Genetics and Molecular Biology, 2021

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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."