@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:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_head { this: np:hasAssertion dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_assertion; np:hasProvenance dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_provenance; np:hasPublicationInfo dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_publicationInfo; a np:Nanopublication . dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_assertion a np:Assertion . dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_provenance a np:Provenance . dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_publicationInfo a np:PublicationInfo . } dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_assertion { miriam-gene:338 a ncit:C16612 . lld:C0020445 a ncit:C7057 . dgn-gda:DGN2b50c05aa13d749288322e085de8395b sio:SIO_000628 miriam-gene:338, lld:C0020445; a sio:SIO_001121 . } dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_provenance { dgn-np:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_assertion dcterms:description "[In the 'probable' FH probands only three mutations were identified (detection rate 13%), one in the LDLR gene and two in the APOB gene, a detection rate significantly lower (P= 0.02) than in the 'definite' FH probands where 28 mutations were detected (detection rate 37%).]. 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:10208479; 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:NP250546.RA4dgr9p84XJWUpeecXBw83USJ1Ig9C2zMLgEtd_qFRE8130_publicationInfo { this: dcterms:created "2016-05-13T12:43:39+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" . }