Transcriptome analysis of PBMCs from patients with STAT1 activating mutation

Study ID Alternative Stable ID Type
EGAS00001005041 RNASeq

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
The transcriptome of peripheral blood cells (PBMCs) from control or patients with an activation mutation on the STAT1 gene was analyzed. This analysis aimed to identify the major changes in the circulating immune cells of patients with STAT1 mutation and compare this with the result of the perturbation prediction tool huva (human variation, R).
AB 5500xl Genetic Analyzer 6

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