Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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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.
|Illumina HiSeq 4000||40|