Study

Human PI3Kγ Deficiency with Immunodeficiency and Tissue Immunopathology

Study ID Alternative Stable ID Type
phs001848 Parent-Offspring Trios

Study Description

Whole exome sequencing of a trio (parents and offspring) reveals PIK3CG mutations that result in loss of protein in the child with immunodeficiency and immunopathology.

Archive Link Archive Accession
dbGaP phs001848

Who archives the data?

There are no publications available