@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:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_head { this: np:hasAssertion dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_assertion; np:hasProvenance dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_provenance; np:hasPublicationInfo dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_publicationInfo; a np:Nanopublication . dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_assertion a np:Assertion . dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_provenance a np:Provenance . dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_publicationInfo a np:PublicationInfo . } dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_assertion { miriam-gene:5837 a ncit:C16612 . lld:C0017924 a ncit:C7057 . dgn-gda:DGNb9c4579da1bed315405fd84f9f6d290b sio:SIO_000628 miriam-gene:5837, lld:C0017924; a sio:SIO_001122 . } dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_provenance { dgn-np:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_assertion dcterms:description "[To investigate if nonsense mediated decay affects the levels of transcripts containing PYGM mutations, 28 Spanish patients with McArdle disease, harboring 17 different mutations with premature termination codons in 77% of their alleles, were studied.]. 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:17994553; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP231120.RAFYVX-l6DStfnnktG-b5Vj-4mstqFa-c1_JGr9Gp9AD8130_publicationInfo { this: dcterms:created "2016-05-13T12:43:31+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" . }