Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Dataset ID Technology Samples
EGAD00001005950 Illumina HiSeq 4000 40

Dataset Description

Gray Platelet Syndrome (GPS) is a rare recessive bleeding disorder resulting from biallelic variants in NBEAL2. As part of a comprehensive evaluation of the phenotype and genotype in 47 patients with GPS, four different blood cell-types (platelets, neutrophils, monocytes, and CD4-lymphocytes) were evaluated using bulk RNA-seq in five patients and five controls. These data are deposited in this archive in FASTQ format.

Data Use Conditions


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Label Code Version Modifier
general research use DUO:0000042 2019-01-07
user specific restriction DUO:0000026 2019-01-07
project specific restriction DUO:0000027 2019-01-07
institution specific restriction DUO:0000028 2019-01-07
return to database or resource DUO:0000029 2019-01-07