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Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr43→Ile) CDC42 variant in patients with autoinflammation and uncovered a molecular link between CDC42 and the infla...
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