Genetic & Genomic MedicinemedRxivPreprint
An integrated computational, clinical, and functional framework for assessing PTPN11 (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders
Mario Rodríguez-Martín, Kenza Cheriet, Sandrine Adiba…·Pablo Prieto‐Matos
The paper assesses PTPN11 variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders through clinical, biochemical, and in vivo analyses.
DOI 10.64898/2026.07.09.26357683