Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.R209Splc
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EXT2

NM_207122.2:p.R209Splc

Associated Papers

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Yang A et al.

Annals of Human Genetics, 2019

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Santos SCL et al.

Molecular Genetics & Genomic Medicine, 2018

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

Wuyts W et al.

Clinical Genetics, 2005

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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."