C139794Level 6
Activating PTPN11 Gene Mutation
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A change in the nucleotide sequence of the PTPN11 gene that results in constitutive activation of both tyrosine-protein phosphatase non-receptor type 11 and its downstream signaling pathways.
**Synonyms:** - Activating PTPN11 Mutation - Activating PTPN11 Mutation - BPTP3 Activating Mutation - PTP-1D Activating Mutation - PTP2C Activating Mutation - PTPN11 Activating Gene Mutation - PTPN11 Activating Mutation - Protein Tyrosine Phosphatase, Non-Receptor Type 11 Activating Mutation - SH-PTP2 Activating Mutation - SHP-2 Activating Mutation - SHP2 Activating Mutation
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