@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:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_head { this: np:hasAssertion dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_assertion; np:hasProvenance dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_provenance; np:hasPublicationInfo dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_publicationInfo; a np:Nanopublication . dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_assertion a np:Assertion . dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_provenance a np:Provenance . dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_publicationInfo a np:PublicationInfo . } dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_assertion { miriam-gene:92086 a ncit:C16612 . lld:C2931264 a ncit:C7057 . dgn-gda:DGN8efcc97e7ee8e7d08fe897c9c6208edf sio:SIO_000628 miriam-gene:92086, lld:C2931264; a sio:SIO_001121 . } dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_provenance { dgn-np:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_assertion dcterms:description "[ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity.]. 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:15052268; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP612091.RAFUYl7tJ0EUF2lcCe_LQkbu1EIjooPCxHEBnqzQBSwOA130_publicationInfo { this: dcterms:created "2014-10-02T12:38:10+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }