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- Bcec8a6021fc65bf03d767a8a69fe8aa5 NCIT_P378 "NCI" @default.
- Bcec8a6021fc65bf03d767a8a69fe8aa5 type Axiom @default.
- Bcec8a6021fc65bf03d767a8a69fe8aa5 annotatedProperty IAO_0000115 @default.
- Bcec8a6021fc65bf03d767a8a69fe8aa5 annotatedSource NCIT_C19635 @default.
- Bcec8a6021fc65bf03d767a8a69fe8aa5 annotatedTarget "A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA1 gene. Approximately 75% of these alterations result in a truncated form of the breast cancer type 1 susceptibility protein. Mutations in the BRCA1 gene predispose individuals to breast and ovarian cancers." @default.