@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:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_head { this: np:hasAssertion dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_assertion; np:hasProvenance dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_provenance; np:hasPublicationInfo dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_publicationInfo; a np:Nanopublication . dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_assertion a np:Assertion . dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_provenance a np:Provenance . dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_publicationInfo a np:PublicationInfo . } dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_assertion { miriam-gene:9927 a ncit:C16612 . lld:C0007959 a ncit:C7057 . dgn-gda:DGN5a60e72cc730dd23956ef82fa05a4804 sio:SIO_000628 miriam-gene:9927, lld:C0007959; a sio:SIO_001121 . } dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_provenance { dgn-np:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_assertion dcterms:description "[Sensomotoric hereditary neuropathies (Charcot-Marie-Tooth) are a large heterogeneous group of various hereditary neuropathies, which have also been associated with a wide spectrum of genetic mutations, such as PMP22, LITAF, EGR2, P0 protein, KIF1B, MFN2, RAB7 and others.]. 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:26040103; 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:NP1286433.RAnop6m0dw-BCj95Yd1zjuNEzLbv_7rYHQFOkmDmJwatg130_publicationInfo { this: dcterms:created "2016-05-13T12:51:29+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" . }