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rdf:type | |
calbc:hasCorrelation | |
skos:definition |
NCI: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.,NCI: 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.,MSH: A mutation that converts a sense codon (CODON) into a stop codon (CODON, TERMINATOR) or an unassigned codon and leads to the formation of truncated proteins.
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skos:inScheme | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R124595715,
http://linkedlifedata.com/resource/umls/relation/R124713487,
http://linkedlifedata.com/resource/umls/relation/R41139580,
http://linkedlifedata.com/resource/umls/relation/R41139686,
http://linkedlifedata.com/resource/umls/relation/R41159336,
http://linkedlifedata.com/resource/umls/relation/R41159337,
http://linkedlifedata.com/resource/umls/relation/R32182859
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