@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:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_head { this: np:hasAssertion dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_assertion; np:hasProvenance dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_provenance; np:hasPublicationInfo dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_publicationInfo; a np:Nanopublication . dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_assertion a np:Assertion . dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_provenance a np:Provenance . dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_assertion { miriam-gene:8291 a ncit:C16612 . lld:C0026850 a ncit:C7057 . dgn-gda:DGN60d6f3658613aaaaff8ae77b0af2d9a1 sio:SIO_000628 miriam-gene:8291, lld:C0026850; a sio:SIO_001121 . } dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_provenance { dgn-np:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_assertion dcterms:description "[Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B), respectively.]. 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:11532985; 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:NP329110.RANPcBlgzDPXY9jIDnZqvY825PTAV0FLVpgjNkfkXNKyQ130_publicationInfo { this: dcterms:created "2016-05-13T12:44:14+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" . }