@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:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_head { this: np:hasAssertion dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_assertion; np:hasProvenance dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_provenance; np:hasPublicationInfo dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_publicationInfo; a np:Nanopublication . dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_assertion a np:Assertion . dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_provenance a np:Provenance . dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_publicationInfo a np:PublicationInfo . } dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_assertion { miriam-gene:4760 a ncit:C16612 . lld:C0272187 a ncit:C7057 . dgn-gda:DGNc84d8e05351fa749c8d3f608d0812abd sio:SIO_000628 miriam-gene:4760, lld:C0272187; a sio:SIO_001121 . } dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_provenance { dgn-np:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_assertion dcterms:description "[The aim of this study was to analyze mutations in DNA from patients with leukocyte adhesion deficiency (LAD), an immunodeficiency caused by absence of the beta(2) subunit (CD18) of the leukocyte integrins LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150,95 (CD11c/CD18), and CR4 (CD11d/CD18).]. 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:11882363; 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:NP347367.RADkR1-gucbsXf1bpbuANaDNy68B190rCDa9TKKXKRs4w130_publicationInfo { this: dcterms:created "2016-05-13T12:44:22+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" . }