CHOP VEO-IBD Data Access Committee

Judith Kelsen
kelsen@email.chop.edu

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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