@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:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_head { this: np:hasAssertion dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_assertion; np:hasProvenance dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_provenance; np:hasPublicationInfo dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_publicationInfo; a np:Nanopublication . dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_assertion a np:Assertion . dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_provenance a np:Provenance . dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_publicationInfo a np:PublicationInfo . } dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_assertion { miriam-gene:8291 a ncit:C16612 . lld:C1850808 a ncit:C7057 . dgn-gda:DGNdee78bbf1ed6fc5315031e503426cc05 sio:SIO_000628 miriam-gene:8291, lld:C1850808; a sio:SIO_001121 . } dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_provenance { dgn-np:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_assertion dcterms:description "[Dysferlin encoding gene (DYS) is mutated in the autosomal recessive disorders Miyoshi myopathy, Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and distal anterior compartment myopathy, causing dysferlin deficiency in muscle biopsy.]. 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:17825554; 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:NP629032.RAq5JuZyzPBOPI9-WQl4b_OwmYL-mP6HmYlSygX8bYtO8130_publicationInfo { this: dcterms:created "2016-05-13T12:46:30+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" . }