Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion> ?p ?o ?g. }
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- NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion type Assertion NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_head.
- 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.