http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_head http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://identifiers.org/ncbigene/1066 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0008384 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN72b66d6438bb6f73e34131980b1a5316 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1066 http://rdf.disgenet.org/resource/gda/DGN72b66d6438bb6f73e34131980b1a5316 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008384 http://rdf.disgenet.org/resource/gda/DGN72b66d6438bb6f73e34131980b1a5316 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://purl.org/dc/terms/description [The objectives of our studies were not only to directly compare and contrast the clinical features of Wolman disease and cholesteryl ester storage disease but also to determine the reasons(s) for the varied phenotype expression of acid cholesteryl ester hydrolase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/6097111 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/dc/terms/created 2016-05-13T12:51:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1304701.RAM5y2TgU36q-sd9d1KWChjBJcJLpzLsYYytk3BRXNpGo http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0