Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.Y255*
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EXT2

NM_000401.3:p.Y255*

Associated Papers

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.

Guo X et al.

Bone & Joint Research, 2025

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Güneş N et al.

Turkish Archives of Pediatrics, 2023

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

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Li Y et al.

Medicine, 2018

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

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W et al.

Human Mutation, 2000

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W et al.

American Journal of Human Genetics, 1998

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C et al.

American Journal of Human Genetics, 1997

Hereditary multiple exostoses.

CANNON JF

American Journal of Human Genetics, 1954

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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."