Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
Manuela Priolo, Erika Zara, Francesca Clementina Radio, Andrea Ciolfi, Francesca Spadaro, Emanuele Bellacchio, Cecilia Mancini, Francesca Pantaleoni, Viviana Cordeddu, Luigi Chiriatti, Marcello Niceta, Emilio Africa, Corrado Mammì, Daniela Melis, Simona Coppola, Marco Tartaglia
Topics & Concepts
Missense mutationRAC1BiologyGTPasePhenotypeGeneticsCDC42Ras superfamilySubfamilyActin cytoskeletonLoss functionComputational biologyCytoskeletonGeneCellSignal transductionGTP'EnzymeBiochemistryCellular Mechanics and InteractionsCellular transport and secretionProtein Kinase Regulation and GTPase Signaling