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Case Report: Aplastic anemia related to a novel CTLA4 variant

1
1. Vibhor 06 Jun 2026
  
  in read_only_demo_group
  
  For transendocytosis experiments
  
  CTLA-4 functional assay performed to assess impact of NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) demonstrated impaired expression of CTLA-4. Figure 2 summarizes experimental results.
  
  ExperimentalAssay:Transendocytosis ExperimentalAssay:Expression ClinVarID:1414930 Ab Deficiencies VCEP
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Ab Deficiencies VCEP

ExperimentalAssay:Expression

ClinVarID:1414930

ExperimentalAssay:Transendocytosis

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Vibhor

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pmc.ncbi.nlm.nih.gov/articles/PMC11363706/