Dataset

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.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

NIHR-BR-RD DAC
Contact person: BioResource DAC
Email: dac [at] bioresource [dot] nihr [dot] ac [dot] uk
More details: EGAC00001000259

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