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    Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ
    1
    1. Vibhor 14 Jun 2026
      in read_only_demo_group
      Functional in vitro testing confirmed the activating effect of this mutation in terms of S6 phosphorylation levels in patients T cells

      Experimental Assay

      ExperimentalAssay ClinVarID:636973 Ab Deficiencies VCEP
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    • Ab Deficiencies VCEP
    • ClinVarID:636973
    • ExperimentalAssay

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    • Vibhor

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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1521661620306483
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