Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_assertion description "[Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_assertion evidence source_evidence_literature NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_assertion SIO_000772 8598644 NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_assertion wasDerivedFrom befree-20140225 NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_assertion wasGeneratedBy ECO_0000203 NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP848953.RA3ezmFdX5f2xAnFnnU-A8z7SOrnD6orxfUVv1jRe8muU130_provenance.