Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
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.
- 40 samples
- DAC: EGAC00001000259
- Technology: Illumina HiSeq 4000
- US DUO:0000026 (version: 2019-01-07)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
- PS DUO:0000027 (version: 2019-01-07)project specific restrictionThis data use modifier indicates that use is limited to use within an approved project.
- IS DUO:0000028 (version: 2019-01-07)institution specific restrictionThis data use modifier indicates that use is limited to use within an approved institution.
- RTN DUO:0000029 (version: 2019-01-07)return to database or resourceThis data use modifier indicates that the requestor must return derived/enriched data to the database/resource.
- GRU DUO:0000042 (version: 2019-01-07)general research useThis data use permission indicates that use is allowed for general research use for any research purpose.
NIHR-BR-RD Data Access Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001004216 | Other |
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