Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion wasGeneratedBy ECO_0000203 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion wasDerivedFrom befree-2016 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion SIO_000772 23403440 NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_assertion evidence source_evidence_literature NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.
- NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_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." NP1052348.RAznmGtGSQ3FbdvKypqgsAheKeydF7zfJBT_vFYz4ijYQ130_provenance.