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- B16a3354d3ccb8400efc56a0f62d963b1 NCIT_P378 "NCI" @default.
- B16a3354d3ccb8400efc56a0f62d963b1 type Axiom @default.
- B16a3354d3ccb8400efc56a0f62d963b1 annotatedProperty IAO_0000115 @default.
- B16a3354d3ccb8400efc56a0f62d963b1 annotatedSource NCIT_C19636 @default.
- B16a3354d3ccb8400efc56a0f62d963b1 annotatedTarget "A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer." @default.