@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion ; np:hasProvenance sub:provenance ; np:hasPublicationInfo sub:publicationInfo ; a np:Nanopublication . } sub:assertion { dgn-gda:DGN1a7da704554cf44330d14ee39d289973 sio:SIO_000628 miriam-gene:1289 , lld:C4225429 ; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ; wi:evidence dgn-void:source_evidence_curated ; sio:SIO_000772 miriam-pubmed:10602121 ; prov:wasDerivedFrom dgn-void:UNIPROT ; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205 ; rdfs:comment "Gene-disease associations manually curated."@en ; rdfs:label "DisGeNET evidence - CURATED"@en . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:11:39+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }