@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:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_head { this: np:hasAssertion dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_assertion; np:hasProvenance dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_provenance; np:hasPublicationInfo dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_publicationInfo; a np:Nanopublication . dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_assertion a np:Assertion . dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_provenance a np:Provenance . dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_assertion { miriam-gene:5376 a ncit:C16612 . lld:C0031117 a ncit:C7057 . dgn-gda:DGN3577283bb48083391c22853198b2fc5f sio:SIO_000628 miriam-gene:5376, lld:C0031117; a sio:SIO_001121 . } dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_provenance { dgn-np:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_assertion dcterms:description "[Two of the most common inherited peripheral neuropathies, Charcot-Marie-Tooth 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), are two such diseases resulting from alteration in gene copy number of the dosage sensitive peripheral myelin protein 22 (PMP22) gene.]. 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:12885335; 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:NP403519.RARwx7EAcEXRdfQ7MlmvN7oNmiBpwOwsZihTR0WTHdtCQ130_publicationInfo { this: dcterms:created "2016-05-13T12:44:48+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" . }