Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)
PMID: 28428270
Gene: PIK3CD
HGNC: 8977
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)
PMID: 28428270
Gene: PIK3CD
HGNC: 8977
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)
PMID: 30639166
Gene: PIK3CD
HGNC: 8977
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ
PMID: 32681977
Gene: PIK3CD
HGNC: 8977