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- B2b584341a7e25f8cd79bd30919301455 NCIT_P378 "NCI" @default.
- B2b584341a7e25f8cd79bd30919301455 type Axiom @default.
- B2b584341a7e25f8cd79bd30919301455 annotatedProperty IAO_0000115 @default.
- B2b584341a7e25f8cd79bd30919301455 annotatedSource NCIT_C167249 @default.
- B2b584341a7e25f8cd79bd30919301455 annotatedTarget "A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with a proline followed by 6 non-canonical amino acids and stop codon." @default.