Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples
收藏NIAID Data Ecosystem2026-03-12 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001004880
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资源简介：
To define the mechanistic basis of clonal hematopoiesis in Shwachman-Diamond syndrome (SDS), we investigated somatic mutations acquired by patients with SDS followed longitudinally. This dataset includes the initial discovery cohort whole exome sequencing from bone marrow samples used to identify novel somatic mutations in patients with SDS. Paired fibroblasts serve as a germline control.EGA study EGAS00001004880
创建时间：
2021-03-12
