| Dataset ID | Technology | Samples |
|---|---|---|
| EGAD00001004963 | unspecified | 3 |
Dataset Description
Whole exome paired-end sequencing data was performed on a trio (patient + parents) who has primary immunodeficiency to identify the genetic cause of the immunodeficiency. Analysis revealed a novel homozygous mutation in IL2RB.
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:
CHOP VEO-IBD Data Access Committee
Contact person: Judith Kelsen
Email: kelsen [at] email [dot] chop [dot] edu
More details: EGAC00001001175
