DAC
CHOP VEO-IBD Data Access Committee
Dac ID | Contact Person | Access Information | |
---|---|---|---|
EGAC00001001175 | Judith Kelsen | kelsen [at] email [dot] chop [dot] edu | No additional information is available |
This DAC controls 1 dataset:
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001004963 | 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. | unspecified | 3 |