C158062Level 6
Activating NOTCH4 Mutation
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A change in the nucleotide sequence of the NOTCH4 gene that results in constitutive activation of both neurogenic locus notch homolog protein 4 and its downstream signaling pathways.
**Synonyms:** - Activating INT3 Gene Mutation - Activating NOTCH4 Gene Mutation - Activating Notch 4 Gene Mutation - Activating Notch Homolog 4 Gene Mutation - NOTCH4 Activating Gene Mutation - NOTCH4 Activating Mutation
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