@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_head { this: np:hasAssertion dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_assertion; np:hasProvenance dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_provenance; np:hasPublicationInfo dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_publicationInfo; a np:Nanopublication . dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_assertion a np:Assertion . dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_provenance a np:Provenance . dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_publicationInfo a np:PublicationInfo . } dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_assertion { miriam-gene:3949 a ncit:C16612 . lld:C0020443 a ncit:C7057 . dgn-gda:DGN9cd9ef03d60f8f06d95b06ca64078846 sio:SIO_000628 miriam-gene:3949, lld:C0020443; a sio:SIO_001121 . } dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_provenance { dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_assertion dcterms:description "[Because ARH also binds directly to phosphoinositides, which regulate clathrin bud assembly at the cell surface, our data suggest that in ARH patients, defective sorting adaptor function in hepatocytes leads to faulty LDL receptor traffic and hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:12451172; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP375697.RA2KZgauJwH3bLGx7zUDkFaRM5-M0T4YxAN6LUrHEqKb4130_publicationInfo { this: dcterms:created "2016-05-13T12:44:35+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }