Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_assertion description "[It is possible that the W462X mutation of LDLR gene is the main cause for familial hypercholesterolemia the family studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_assertion evidence source_evidence_literature NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_assertion SIO_000772 18247305 NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_assertion wasDerivedFrom lhgdn-20090331 NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_assertion wasGeneratedBy ECO_0000203 NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP197927.RASI7177XNV6hBUinC9V1XsowMC2RkVGCCK6iH7HPLo0Y130_provenance.