Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_assertion description "[This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_assertion evidence source_evidence_literature NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_assertion SIO_000772 18978954 NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_assertion wasDerivedFrom lhgdn-20090331 NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_assertion wasGeneratedBy ECO_0000203 NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP120795.RA_wr50lTkq3P5l5-U2V0U_2jWYVCQMr6s2utg8OfSf90130_provenance.