Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R227delFs
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EXT1

NM_000127.3:p.R227delFs

Associated Papers

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

Li Y et al.

Medicine, 2018

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

Li Y et al.

Bmc Medical Genetics, 2017

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.

Guo XL et al.

Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.

Li Y et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."