@prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_head { this: np:hasAssertion dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion; np:hasProvenance dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_provenance; np:hasPublicationInfo dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_publicationInfo; a np:Nanopublication . dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion a np:Assertion . dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_provenance a np:Provenance . dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_publicationInfo a np:PublicationInfo . } dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion { miriam-gene:368 a ncit:C16612 . lld:C0033847 a ncit:C7057 . dgn-gda:DGN6d916cfc091a6b43ad15e68f7fd59728 sio:SIO_000628 miriam-gene:368, lld:C0033847; a sio:SIO_001122 . } dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_provenance { dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion dcterms:description "[We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and the cardiovascular system.]. 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:10954200; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_publicationInfo { this: dcterms:created "2016-05-13T12:41:50+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" . }