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AttributesValues
rdf:type
rdfs:label
  • Splice-Site Mutation
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • Splice-Site Mutation
UMLS_CUI
  • C1519478
Legacy_Concept_Name
  • Splice-Site_Mutation
FULL_SYN
  • Splice-Site Mutation AbnormalitySYNCI
  • Splice-Juction MutationSYNCI
  • Intron Splice Site MutationSYNCI
  • Intronic Splice Site MutationSYNCI
  • Splice-Site MutationPTNCI
DEFINITION
  • 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.NCI
code
  • C19798
is someValuesFrom of
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