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C142118Level 6

Activating PIK3R2 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PIK3R2 gene that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit beta and its downstream signaling pathways.

**Synonyms:** - Activating P85B Gene Mutation - Activating Phosphoinositide-3-Kinase Regulatory Subunit 2 Gene Mutation - Activating p85-BETA Gene Mutation - PIK3R2 Activating Mutation

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