a novel duplication mutation in the ENG gene
收藏DataCite Commons2025-06-01 更新2025-05-07 收录
下载链接：
https://figshare.com/articles/dataset/a_novel_duplication_mutation_in_the_ENG_gene/28926920/3
下载链接
链接失效反馈官方服务：
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：
figshare
创建时间：
2025-05-04
