Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_assertion wasGeneratedBy ECO_0000203 NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_assertion wasDerivedFrom befree-20150227 NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_assertion SIO_000772 16802107 NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_assertion evidence source_evidence_literature NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.
- NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_assertion description "[Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid-rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann-Pick disease type B; NPB) or a much rarer disorder, variant adult visceral form of Niemann-Pick disease type C (NPC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704149.RAiEESVvpa75e2EBTgWNPZutiCDlGQ8KheyMza-oH1sKU130_provenance.