Log in Sign up
2 Matching Annotations
  1. Last 7 days
  2. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)
    1
    1. Vibhor 28 Jun 2026
      in read_only_demo_group
      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

      ClinGen General Gene:PIK3CD HGNC:8977 ExperimentalAssay:S6Phosphorylation Ab Deficiencies VCEP
    Visit annotations in context

    Tags

    • Gene:PIK3CD
    • General
    • ExperimentalAssay:S6Phosphorylation
    • ClinGen
    • Ab Deficiencies VCEP
    • HGNC:8977

    Annotators

    • Vibhor

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1521661618306648
  3. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ
    1
    1. Vibhor 28 Jun 2026
      in read_only_demo_group
      Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ

      PMID: 32681977

      Gene: PIK3CD

      HGNC: 8977

      ClinGen Gene:PIK3CD General HGNC:8977 ExperimentalAssay:S6Phosphorylation Ab Deficiencies VCEP
    Visit annotations in context

    Tags

    • Gene:PIK3CD
    • General
    • ExperimentalAssay:S6Phosphorylation
    • ClinGen
    • Ab Deficiencies VCEP
    • HGNC:8977

    Annotators

    • Vibhor

    URL

    pdf.sciencedirectassets.com/272492/1-s2.0-S1521661620X0009X/1-s2.0-S1521661620306483/main.pdf
Share:
Group. Only group members will be able to view this annotation.
Only me. No one else will be able to view this annotation.
Hypothes.is
  • About
  • Blog
  • Bioscience
  • Education
  • Jobs
  • Help
  • Contact
  • Terms of Service
  • Privacy Policy