Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion wasGeneratedBy ECO_0000218 NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion wasDerivedFrom ctd_human-20130708 NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion SIO_000772 18049162 NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion evidence source_evidence_curated NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion description "[Genetic examination revealed a normal familial intrahepatic cholestasis-1 gene, but a heterozygous mutation for the ABCB11, C1620A (F540L), was observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance.