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DBA case samples using 250K Nsp
Diamond–Blackfan anemia (DBA), is a rare congenital anemia that usually presents in infancy. About fifty percent of DBA patients possess mutations in ribosomal protains (RPs). In this study, we performed genomic copy number analysis using SNP arrays for 27 Japanese DBA patients to detect genomic c...
Data Access Committee EGAC01000000005
The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
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