Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_assertion description "[In our mutation analyses of bilirubin UDP glycosyltransferase (UGT1A1) gene, we encountered six patients with Crigler-Najjar syndrome type II who were double homozygotes for G71R and Y486D, a patient with Gilbert's syndrome who was a single homozygote for G71R and six patients with Gilbert's syndrome who were single heterozygote for G71R.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_assertion evidence source_evidence_literature NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_assertion SIO_000772 9630669 NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_assertion wasDerivedFrom befree-20140225 NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_assertion wasGeneratedBy ECO_0000203 NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.
- befree-20140225 importedOn "2014-02-25" NP430040.RAN1qnCwBWwz1UEN04qo-n6cWGlLPXfH2PBeyEiyNO590130_provenance.