" /> Activating NOTCH2 Mutation - CISMeF





Preferred Label : Activating NOTCH2 Mutation;

NCIt synonyms : Activating Notch 2 Gene Mutation; Activating hN2 Gene Mutation; Activating Notch (Drosophila) Homolog 2 Gene Mutation; NOTCH2 Activating Mutation; Activating NOTCH2 Gene Mutation; Activating HJCYS Gene Mutation; Activating AGS2 Gene Mutation; Activating Notch Homolog 2 Gene Mutation; NOTCH2 Activating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the NOTCH2 gene that results in constitutive activation of both neurogenic locus notch homolog protein 2 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937576;

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31/07/2025


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