Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.L165delFs
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EXT2

NM_207122.2:p.L165delFs

Associated Papers

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

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

Wuyts W et al.

Human Mutation, 2000

Mutation analysis of hereditary multiple exostoses in the Chinese.

Xu L et al.

Human Genetics, 0

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