Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants - Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; et al. (European journal of human genetics : EJHG, 2023)
Keywords: Actin; Amino acids; Cdc42 protein; Cell adhesion & migration; Cell differentiation; Cell migration; Cytoskeleton; Genetic variability; GTP-binding protein; Humans; Immune system; Microscopy; Morphology; Mutation; Mutation, Missense; Neurodevelopmental disorders; Neurodevelopmental Disorders - genetics; Pathogenicity; Proteins; rac GTP-Binding Proteins - genetics; rac1 GTP-Binding Protein - chemistry; rac1 GTP-Binding Protein - genetics; rac1 GTP-Binding Protein - metabolism; Rac1 protein; Structure-function relationships