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A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinemia.

Takuji ItakuraHirokazu SasakiTadashi HosoyaTaiki YamaguchiErika MimoriYukino SaimonHideyuki IwaiNatsuka UmezawaDaisuke KawataNaoki KimuraMorito KurataMasaki ShimizuShinsuke Yasuda
Published in: Rheumatology (Oxford, England) (2023)
Keyphrases
  • intellectual disability