Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.Q176*
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EXT2

NM_207122.2:p.Q176*

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 Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.

Tong Y et al.

Genetic Testing and Molecular Biomarkers, 2021

A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas.

Chen Z et al.

Genetic Testing and Molecular Biomarkers, 2020

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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."