@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:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_head { this: np:hasAssertion dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion; np:hasProvenance dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_provenance; np:hasPublicationInfo dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_publicationInfo; a np:Nanopublication . dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion a np:Assertion . dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_provenance a np:Provenance . dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion { miriam-gene:338 a ncit:C16612 . lld:C0020445 a ncit:C7057 . dgn-gda:DGN93f035f3f984edc364990dbd22fc7a9f sio:SIO_000628 miriam-gene:338, lld:C0020445; a sio:SIO_001122 . } dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_provenance { dgn-np:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_assertion dcterms:description "[The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations.]. 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:21310417; 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:NP871501.RA3OJbsmzAQhN9tv8k_D_HWXxnMq9VD5D2dn38eAZHbeQ130_publicationInfo { this: dcterms:created "2016-05-13T12:48:19+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" . }