a novel duplication mutation in the ENG gene
收藏Figshare2025-05-04 更新2026-04-08 收录
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https://figshare.com/articles/dataset/a_novel_duplication_mutation_in_the_ENG_gene/28926920/3
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资源简介：
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder characterized by arteriovenous malformations (AVMs) affecting multiple organs. Genetic testing identified a novel duplication mutation in the ENG gene, c.680_687dupACTCGGCC (p.G230Tfs*8).
提供机构：
ye, fanlong; chen, sheng; Li, Wenwei; Gu, Linting
创建时间：
2025-05-04
