Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_assertion wasGeneratedBy ECO_0000203 NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_assertion wasDerivedFrom befree-20140225 NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_assertion SIO_000772 23403440 NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_assertion evidence source_evidence_literature NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_assertion description "[LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP644143.RA4Tmii8v2cejncgPUbmfWDM4_DbZyhzDRnlEF0SwqT1s130_provenance.