EGAS00001000264-sc-20140514 - samples
收藏NIAID Data Ecosystem2026-03-10 收录
下载链接：
https://www.omicsdi.org/dataset/ega/EGAD00001000847
下载链接
链接失效反馈官方服务：
资源简介：
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.EGA dataset EGAD00001000847
创建时间：
2017-07-26
