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- NCIT_C19798 IAO_0000115 "Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message." @default.
- NCIT_C19798 NCIT_A32 NCIT_C173544 @default.
- NCIT_C19798 NCIT_A32 NCIT_C97926 @default.
- NCIT_C19798 NCIT_NHC0 "C19798" @default.
- NCIT_C19798 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C19798 NCIT_P108 "Splice-Site Mutation" @default.
- NCIT_C19798 NCIT_P207 "C1519478" @default.
- NCIT_C19798 NCIT_P322 "GDC" @default.
- NCIT_C19798 NCIT_P366 "Splice-Site_Mutation" @default.
- NCIT_C19798 NCIT_P375 "Splice Region Variant" @default.
- NCIT_C19798 NCIT_P375 "Splice" @default.
- NCIT_C19798 normalizedInformationContent "84.132738204908478" @default.
- NCIT_C19798 referenceCount "11" @default.
- NCIT_C19798 hasExactSynonym "Splice Region Variant" @default.
- NCIT_C19798 hasExactSynonym "Splice" @default.
- NCIT_C19798 hasExactSynonym "Splice-Juction Mutation" @default.
- NCIT_C19798 hasExactSynonym "Splice-Site Mutation Abnormality" @default.
- NCIT_C19798 hasExactSynonym "Splice-Site Mutation" @default.
- NCIT_C19798 inSubset NCIT_C157711 @default.
- NCIT_C19798 inSubset NCIT_C177537 @default.
- NCIT_C19798 type Class @default.
- NCIT_C19798 isDefinedBy ncit.owl @default.
- NCIT_C19798 label "Splice-Site Mutation" @default.
- NCIT_C19798 subClassOf NCIT_C18093 @default.
- NCIT_C19798 subClassOf NCIT_C19798 @default.
- NCIT_C19798 subClassOf NCIT_C36327 @default.
- NCIT_C19798 subClassOf NCIT_C36391 @default.
- NCIT_C19798 subClassOf NCIT_C3910 @default.
- NCIT_C19798 subClassOf NCIT_C45576 @default.
- NCIT_C19798 subClassOf NCIT_C97926 @default.