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- NCIT_C19636 IAO_0000115 "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.
- NCIT_C19636 NCIT_NHC0 "C19636" @default.
- NCIT_C19636 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C19636 NCIT_P107 "BRCA2 Gene Mutation" @default.
- NCIT_C19636 NCIT_P108 "BRCA2 Gene Mutation" @default.
- NCIT_C19636 NCIT_P207 "C1511024" @default.
- NCIT_C19636 NCIT_P322 "CTRP" @default.
- NCIT_C19636 NCIT_P322 "OORO" @default.
- NCIT_C19636 NCIT_P366 "BRCA2_Mutation" @default.
- NCIT_C19636 NCIT_R177 NCIT_C159207 @default.
- NCIT_C19636 NCIT_R177 NCIT_C16612 @default.
- NCIT_C19636 NCIT_R177 NCIT_C18120 @default.
- NCIT_C19636 NCIT_R177 NCIT_C18297 @default.
- NCIT_C19636 NCIT_R177 NCIT_C192893 @default.
- NCIT_C19636 NCIT_R177 NCIT_C19676 @default.
- NCIT_C19636 NCIT_R178 NCIT_C131468 @default.
- NCIT_C19636 NCIT_R178 NCIT_C3910 @default.
- NCIT_C19636 NCIT_R178 NCIT_C97926 @default.
- NCIT_C19636 NCIT_R178 NCIT_C97928 @default.
- NCIT_C19636 normalizedInformationContent "73.604245822873736" @default.
- NCIT_C19636 referenceCount "54" @default.
- NCIT_C19636 hasExactSynonym "BRCA2 Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "BRCA2 Mutation" @default.
- NCIT_C19636 hasExactSynonym "BRCA2" @default.
- NCIT_C19636 hasExactSynonym "BRCC2 Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "BROVCA2 Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "Breast Cancer 2 Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "Breast Cancer 2, Early Onset Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "Breast Cancer Type 2 Susceptibility Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "FANCD1 Gene Mutation" @default.
- NCIT_C19636 hasExactSynonym "Mutation of the BRCA2 Gene" @default.
- NCIT_C19636 hasExactSynonym "XRCC11 Gene Mutation" @default.
- NCIT_C19636 inSubset NCIT_C116977 @default.
- NCIT_C19636 inSubset NCIT_C142799 @default.
- NCIT_C19636 inSubset NCIT_C142800 @default.
- NCIT_C19636 inSubset NCIT_C192234 @default.
- NCIT_C19636 type Class @default.
- NCIT_C19636 isDefinedBy ncit.owl @default.
- NCIT_C19636 label "BRCA2 Gene Mutation" @default.
- NCIT_C19636 subClassOf B35840c5f7f2518a77957b8bd4bf6546f @default.
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- NCIT_C19636 subClassOf NCIT_C159204 @default.
- NCIT_C19636 subClassOf NCIT_C174175 @default.
- NCIT_C19636 subClassOf NCIT_C179406 @default.
- NCIT_C19636 subClassOf NCIT_C19636 @default.
- NCIT_C19636 subClassOf NCIT_C36327 @default.
- NCIT_C19636 subClassOf NCIT_C36391 @default.
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- NCIT_C19636 subClassOf NCIT_C97926 @default.
- NCIT_C19636 subClassOf NCIT_C97927 @default.