Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_assertion wasGeneratedBy ECO_0000203 NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_assertion wasDerivedFrom lhgdn-20090331 NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_assertion SIO_000772 16384941 NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_assertion evidence source_evidence_literature NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_assertion description "[Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA (Leber congenital amaurosis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP122354.RAzbc4FcvUet2xe48c3HI0T71Xd8J37moatpIZGwG5a5Y130_provenance.