@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:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_head { this: np:hasAssertion dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion; np:hasProvenance dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance; np:hasPublicationInfo dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo; a np:Nanopublication . dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion a np:Assertion . dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance a np:Provenance . dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo a np:PublicationInfo . } dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion { miriam-gene:2717 a ncit:C16612 . lld:C0002986 a ncit:C7057 . dgn-gda:DGNea74e2d610e8f0bf50b46024d8235907 sio:SIO_000628 miriam-gene:2717, lld:C0002986; a sio:SIO_001121 . } dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance { dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion dcterms:description "[A large cohort of patients with Fabry disease is being studied to determine the natural history of the disease and how this relates to the specific mutation involved and the amount of residual alpha-galactosidase A 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:11758674; 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:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo { this: dcterms:created "2016-05-13T12:44:19+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" . }