Shwachman Diamond syndrome SDS Exome sequencing
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下载链接：
https://www.omicsdi.org/dataset/ega/EGAS00001000264
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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 study EGAS00001000264
创建时间：
2017-07-26
