@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:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_head { this: np:hasAssertion dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion; np:hasProvenance dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_provenance; np:hasPublicationInfo dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_publicationInfo; a np:Nanopublication . dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion a np:Assertion . dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_provenance a np:Provenance . dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_publicationInfo a np:PublicationInfo . } dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion { miriam-gene:9499 a ncit:C16612 . lld:C0026850 a ncit:C7057 . dgn-gda:DGN781e0db83c0c4ff82281371cbfbc9e76 sio:SIO_000628 miriam-gene:9499, lld:C0026850; a sio:SIO_001122 . } dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_provenance { dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion dcterms:description "[Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies.]. 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:16684602; 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:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_publicationInfo { this: dcterms:created "2016-05-13T12:45:53+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" . }