@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:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_head { this: np:hasAssertion dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_assertion; np:hasProvenance dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_provenance; np:hasPublicationInfo dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_publicationInfo; a np:Nanopublication . dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_assertion a np:Assertion . dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_provenance a np:Provenance . dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_publicationInfo a np:PublicationInfo . } dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_assertion { miriam-gene:729920 a ncit:C16612 . lld:C0020255 a ncit:C7057 . dgn-gda:DGN35fb4028a2dc285f50c2261e47f66304 sio:SIO_000628 miriam-gene:729920, lld:C0020255; a sio:SIO_001121 . } dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_provenance { dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_assertion dcterms:description "[Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.]. 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:22522421; prov:wasDerivedFrom dgn-void:ctd_human-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-2016 pav:importedOn "2016-01-25"^^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 . } dgn-np:NP31187.RA3aFiQ78BAoXp-OoT9m9xZN_VaqnH4Sz4Xsk1zgXvKAY130_publicationInfo { this: dcterms:created "2016-05-13T12:42:03+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" . }