@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:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_head { this: np:hasAssertion dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_assertion; np:hasProvenance dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_provenance; np:hasPublicationInfo dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_publicationInfo; a np:Nanopublication . dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_assertion a np:Assertion . dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_provenance a np:Provenance . dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_publicationInfo a np:PublicationInfo . } dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_assertion { miriam-gene:338 a ncit:C16612 . lld:C0020445 a ncit:C7057 . dgn-gda:DGNfe6624fc59c26822dc452e664047b896 sio:SIO_000628 miriam-gene:338, lld:C0020445; a sio:SIO_001122 . } dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_provenance { dgn-np:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_assertion dcterms:description "[Even though the R46L variant was present in 3% of our FH population, carriers of this polymorphism showed attenuated effect of the low density lipoprotein receptor mutation on parameters, such as low density lipoprotein cholesterol, apolipoprotein B, total cholesterol, and non-high density lipoprotein.]. 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:25278291; 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:NP1225955.RAi3IFQKY-vox9YqTIQd-QdIGpI2wXpYb6Du_8L6TbjYo130_publicationInfo { this: dcterms:created "2016-05-13T12:51:01+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" . }