Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.Q162delFs
Back to variants list

EXT2

NM_207122.2:p.Q162delFs

Associated Papers

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Al-Zayed Z et al.

Orphanet Journal of Rare Diseases, 2021

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.

Jennes I et al.

The Journal of Molecular Diagnostics : Jmd, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."