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- NCIT_C19635 IAO_0000115 "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.
- NCIT_C19635 NCIT_NHC0 "C19635" @default.
- NCIT_C19635 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C19635 NCIT_P107 "BRCA1 Gene Mutation" @default.
- NCIT_C19635 NCIT_P108 "BRCA1 Gene Mutation" @default.
- NCIT_C19635 NCIT_P207 "C1511022" @default.
- NCIT_C19635 NCIT_P322 "CTRP" @default.
- NCIT_C19635 NCIT_P322 "OORO" @default.
- NCIT_C19635 NCIT_P366 "BRCA1_Mutation" @default.
- NCIT_C19635 NCIT_R177 NCIT_C153246 @default.
- NCIT_C19635 NCIT_R177 NCIT_C159207 @default.
- NCIT_C19635 NCIT_R177 NCIT_C16612 @default.
- NCIT_C19635 NCIT_R177 NCIT_C17965 @default.
- NCIT_C19635 NCIT_R177 NCIT_C192893 @default.
- NCIT_C19635 NCIT_R177 NCIT_C19676 @default.
- NCIT_C19635 NCIT_R178 NCIT_C131467 @default.
- NCIT_C19635 NCIT_R178 NCIT_C3910 @default.
- NCIT_C19635 NCIT_R178 NCIT_C97926 @default.
- NCIT_C19635 NCIT_R178 NCIT_C97928 @default.
- NCIT_C19635 normalizedInformationContent "76.665500673570961" @default.
- NCIT_C19635 referenceCount "34" @default.
- NCIT_C19635 hasExactSynonym "BRCA1 Gene Mutation" @default.
- NCIT_C19635 hasExactSynonym "BRCA1 Mutation" @default.
- NCIT_C19635 hasExactSynonym "BRCA1" @default.
- NCIT_C19635 hasExactSynonym "BROVCA1 Gene Mutation" @default.
- NCIT_C19635 hasExactSynonym "Breast Cancer 1 Gene Mutation" @default.
- NCIT_C19635 hasExactSynonym "Breast Cancer 1, Early Onset Gene Mutation" @default.
- NCIT_C19635 hasExactSynonym "Breast Cancer Type 1 Susceptibility Gene Mutation" @default.
- NCIT_C19635 hasExactSynonym "Mutation of the BRCA1 Gene" @default.
- NCIT_C19635 inSubset NCIT_C116977 @default.
- NCIT_C19635 inSubset NCIT_C142799 @default.
- NCIT_C19635 inSubset NCIT_C142800 @default.
- NCIT_C19635 inSubset NCIT_C192234 @default.
- NCIT_C19635 type Class @default.
- NCIT_C19635 isDefinedBy ncit.owl @default.
- NCIT_C19635 label "BRCA1 Gene Mutation" @default.
- NCIT_C19635 subClassOf B09b5cc032a038dbeb4e97d7629d040c3 @default.
- NCIT_C19635 subClassOf B1fa58610184dc5f4146ecc569dd7e4bb @default.
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- NCIT_C19635 subClassOf B99462a16978cece9320b444c63aa3263 @default.
- NCIT_C19635 subClassOf NCIT_C131783 @default.
- NCIT_C19635 subClassOf NCIT_C133695 @default.
- NCIT_C19635 subClassOf NCIT_C159204 @default.
- NCIT_C19635 subClassOf NCIT_C179406 @default.
- NCIT_C19635 subClassOf NCIT_C19635 @default.
- NCIT_C19635 subClassOf NCIT_C36327 @default.
- NCIT_C19635 subClassOf NCIT_C36391 @default.
- NCIT_C19635 subClassOf NCIT_C3910 @default.
- NCIT_C19635 subClassOf NCIT_C97926 @default.
- NCIT_C19635 subClassOf NCIT_C97927 @default.