@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:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_head { this: np:hasAssertion dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_assertion; np:hasProvenance dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_provenance; np:hasPublicationInfo dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_publicationInfo; a np:Nanopublication . dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_assertion a np:Assertion . dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_provenance a np:Provenance . dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_publicationInfo a np:PublicationInfo . } dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_assertion { miriam-gene:23095 a ncit:C16612 . lld:C0007959 a ncit:C7057 . dgn-gda:DGNd40ef07256d594a04ba187d7d91da883 sio:SIO_000628 miriam-gene:23095, lld:C0007959; a sio:SIO_001122 . } dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_provenance { dgn-np:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_assertion dcterms:description "[The reduction of fusion rate by NFL(Q333P) was partly due to interference with the function of the profusion protein MFN2, which is mutated in CMT2A, functionally linking these forms of CMT.]. 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:22155564; 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:NP868066.RApwuP9Px9XXmidhxbFoe7HDEPEg0lnrUYsOyqR1WZ5ow130_publicationInfo { this: dcterms:created "2015-08-25T14:46:28+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" . }