M. Stefanucci

The Germline SH2B3 rs111340708 Splicing Variant Drives Intron Retention and Protein Instability by Impacting Clinical Outcomes in Core Binding Factor AML

Next‐generation sequencing of de novo AML patients identified a common germline splicing polymorphism as a novel mechanism contributing to SH2B3 functional impairment in AML and highlight the potential relevance of non‐coding variants in leukemia pathogenesis, with possible implications for risk stratification and futu...