Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_assertion description "[Here we show that two point mutations of RPE65, R91W and Y368H, identified in patients with retinal dystrophies both abolished the isomerohydrolase activity of RPE65 after a subretinal injection into the Rpe65-/- mice and in the in vitro isomerohydrolase activity assay, independent of their protein levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_assertion evidence source_evidence_literature NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_assertion SIO_000772 16754667 NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_assertion wasDerivedFrom befree-20140225 NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_assertion wasGeneratedBy ECO_0000203 NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP404843.RAyY98hxk2jfZWK8agpnlybxTxqPeXHJjZlV5KrMmzHKI130_provenance.