@prefix dcterms: . @prefix dgn-np: . @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 np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_head { this: np:hasAssertion dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion; np:hasProvenance dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_provenance; np:hasPublicationInfo dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_publicationInfo; a np:Nanopublication . dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion a np:Assertion . dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_provenance a np:Provenance . dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_publicationInfo a np:PublicationInfo . } dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion { miriam-gene:8291 a ncit:C16612 . lld:C1850889 a ncit:C7057 . dgn-gda:DGNfe6c4c0b164bd3fda0727f03c8c80e62 sio:SIO_000628 miriam-gene:8291, lld:C1850889; a sio:SIO_001122 . } dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_provenance { dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion dcterms:description "[These findings emphasize the role for the dysferlin gene as being responsible for both LGMD2B and MM, but that the distinction between these two clinical phenotypes requires the identification of additional factor(s), such as modifier gene(s).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:10196377; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_publicationInfo { this: dcterms:created "2016-05-13T12:41:50+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" . }