Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants

European Journal of Human Genetics, Published online: 14 April 2023; doi:10.1038/s41431-023-01351-7Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants

Source: European Journal of Human Genetics - April 14, 2023 Category: Genetics & Stem Cells Authors: 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 Mamm ì Daniela Melis Simona Coppola Marco Source Type: research