Linda Montavoci

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...