Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.Q258*
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EXT2

NM_207122.2:p.Q258*

Associated Papers

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Gnoli M et al.

Orphanet Journal of Rare Diseases, 2024

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

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W et al.

Annals of Human Genetics, 2009

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Lonie L et al.

Human Mutation, 2006

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

Wuyts W et al.

Clinical Genetics, 2005

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."