Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.V116_Y119Fs
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EXT1

NM_000127.3:p.V116_Y119Fs

Associated Papers

[Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses].

Deng LB et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

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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."