Hypothesis

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Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

1
1. Vibhor 29 Jun 2026
  
  in read_only_demo_group
  
  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
  
  General Gene:PIK3CD HGNC:8977 ExperimentalAssay:AKTkinaseActivity ExperimentalAssay:S6Phosphorylation Ab Deficiencies VCEP
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Tags

ExperimentalAssay:AKTkinaseActivity

Ab Deficiencies VCEP

Gene:PIK3CD

General

HGNC:8977

ExperimentalAssay:S6Phosphorylation

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5566055/