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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46060> ?p ?o ?g. }

• NCIT_C46060 IAO_0000115 "Human CYP2D6*44 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*44 protein. The CYP2D6*44 allele exhibits a clinically-relevant SNP (g.2950G>C) in the intron 6 donor splice junction that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*44 protein." @default.
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• NCIT_C46060 normalizedInformationContent "100" @default.
• NCIT_C46060 referenceCount "1" @default.
• NCIT_C46060 hasExactSynonym "CYP2D6*44 Allele" @default.
• NCIT_C46060 hasExactSynonym "CYP2D6*44" @default.
• NCIT_C46060 hasExactSynonym "CYP2D6, g.2950G>C" @default.
• NCIT_C46060 hasExactSynonym "Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*44 Allele" @default.
• NCIT_C46060 inSubset NCIT_C116977 @default.
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• NCIT_C46060 type Class @default.
• NCIT_C46060 isDefinedBy ncit.owl @default.
• NCIT_C46060 label "CYP2D6*44 Allele" @default.
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