@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:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_head { this: np:hasAssertion dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_assertion; np:hasProvenance dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_provenance; np:hasPublicationInfo dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_publicationInfo; a np:Nanopublication . dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_assertion a np:Assertion . dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_provenance a np:Provenance . dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_publicationInfo a np:PublicationInfo . } dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_assertion { miriam-gene:6442 a ncit:C16612 . lld:C0026848 a ncit:C7057 . dgn-gda:DGN1b1e7d340a5ed81e576c22b5b6002c39 sio:SIO_000628 miriam-gene:6442, lld:C0026848; a sio:SIO_001121 . } dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_provenance { dgn-np:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_assertion dcterms:description "[We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa.]. 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:7663524; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP691984.RAjIxCwmYr-prGkfz7F1XVA_Ob3nUjTZsfXexBJgXRywg130_publicationInfo { this: dcterms:created "2015-08-25T14:44:37+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }