Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.G194*
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EXT2

NM_207122.2:p.G194*

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

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.

Chen WC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006

Genotype-phenotype correlation in hereditary multiple exostoses.

Francannet C et al.

Journal of Medical Genetics, 2001

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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."