Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.L152_F153delFs
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EXT2

NM_207122.2:p.L152_F153delFs

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

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

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Pei Y et al.

Genetic Testing and Molecular Biomarkers, 2010

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Medek K et al.

Prague Medical Report, 0

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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."