@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:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_head { this: np:hasAssertion dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion; np:hasProvenance dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_provenance; np:hasPublicationInfo dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_publicationInfo; a np:Nanopublication . dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion a np:Assertion . dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_provenance a np:Provenance . dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_publicationInfo a np:PublicationInfo . } dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion { miriam-gene:825 a ncit:C16612 . lld:C1869123 a ncit:C7057 . dgn-gda:DGNba41fc7c1cf0e9ff24546cc106e4f3a3 sio:SIO_000628 miriam-gene:825, lld:C1869123; a sio:SIO_001121 . } dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_provenance { dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion dcterms:description "[Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy).]. 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:15351423; 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:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_publicationInfo { this: dcterms:created "2016-05-13T12:45:13+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" . }