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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Nonsense Mutation
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • Nonsense Mutation
UMLS_CUI
  • C0544885
ALT_DEFINITION
  • A mutation that alters the genetic code in a way that causes the premature termination of a protein. The altered protein may be partially or completely inactivated, resulting in a change or loss of protein function.NCI-GLOSS
Legacy_Concept_Name
  • Nonsense_Mutation
FULL_SYN
  • nonsense mutationPTNCI-GLOSSCDR0000671174
  • Premature Termination AbnormalitySYNCI
  • Nonsense MutationPTNCI
  • Premature Termination MutationSYNCI
DEFINITION
  • A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.NCI
code
  • C62198
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