@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:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_head { this: np:hasAssertion dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_assertion; np:hasProvenance dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_provenance; np:hasPublicationInfo dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_publicationInfo; a np:Nanopublication . dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_assertion a np:Assertion . dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_provenance a np:Provenance . dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_publicationInfo a np:PublicationInfo . } dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_assertion { miriam-gene:4359 a ncit:C16612 . lld:C0011195 a ncit:C7057 . dgn-gda:DGN28b50836ff36f89a6e42f40ff125d4b4 sio:SIO_000628 miriam-gene:4359, lld:C0011195; a sio:SIO_001121 . } dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_provenance { dgn-np:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_assertion dcterms:description "[Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination.]. 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:10541586; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP183413.RA5_zL2rMnNlOajfOMuAVBD0P-EKPOoxQwe0GdKx6SyP8130_publicationInfo { this: dcterms:created "2014-10-02T12:33:39+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }