@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:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_head { this: np:hasAssertion dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_assertion; np:hasProvenance dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_provenance; np:hasPublicationInfo dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_publicationInfo; a np:Nanopublication . dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_assertion a np:Assertion . dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_provenance a np:Provenance . dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_publicationInfo a np:PublicationInfo . } dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_assertion { miriam-gene:203859 a ncit:C16612 . lld:C0026850 a ncit:C7057 . dgn-gda:DGNed2a3cc3663ae3770bfd957db40499ab sio:SIO_000628 miriam-gene:203859, lld:C0026850; a sio:SIO_001121 . } dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_provenance { dgn-np:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_assertion dcterms:description "[The cases reported here should help to better understand the important role of mutation screening in the ANO5 gene in patients with adult onset muscular dystrophy and very high CK levels.]. 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:22499103; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP494202.RA5IEPlHGeeYl1mhNaQTnkmbYZ15s1AMHgGcOltlY4zKs130_publicationInfo { this: dcterms:created "2014-10-02T12:36:55+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }