Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
MRD48的临床特征分析及两种新型致病性RAC1变体的功能表征
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01351-7
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; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco