C157592Level 6
Activating JAK2 Gene Mutation
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A change in the nucleotide sequence of the JAK2 gene that results in constitutive activation of both tyrosine-protein kinase JAK2 and its downstream signaling pathways.
**Synonyms:** - Activating JAK-2 Gene Mutation - Activating JAK2 Mutation - Activating JTK10 Gene Mutation - Activating Janus Kinase 2 Gene Mutation - JAK2 Activating Gene Mutation - JAK2 Activating Mutation
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