Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree

Puntos clave

• The PTPN11 p.Asn308Ser variant shows significant functional changes in cellular pathways related to Noonan syndrome.
• This analysis identified key biomarkers associated with the variant's impact on physiological systems.
• Assessment using phosphoproteomics clarifies the variant's role in cellular signaling and disease manifestations.
• Further exploration may enable targeted therapies for individuals with the PTPN11 mutation.