528de7ad-be27-4fd4-9295-442127cd305e - samples

ABSTRACT: 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.

PROVIDER: EGAD00001004963 | EGA |

REPOSITORIES: EGA