@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:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_head { this: np:hasAssertion dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_assertion; np:hasProvenance dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_provenance; np:hasPublicationInfo dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_publicationInfo; a np:Nanopublication . dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_assertion a np:Assertion . dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_provenance a np:Provenance . dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_assertion { miriam-gene:5376 a ncit:C16612 . lld:C0031117 a ncit:C7057 . dgn-gda:DGN3d2d687fcf26fea90f131cc232248300 sio:SIO_000628 miriam-gene:5376, lld:C0031117; a sio:SIO_001121 . } dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_provenance { dgn-np:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_assertion dcterms:description "[Many myelin gene mutants that cause severe disease, such as those in the myelin protein zero gene (MPZ) and the peripheral myelin protein 22 gene (PMP22), appear to make aberrant proteins that accumulate primarily within the endoplasmic reticulum (ER), resulting in Schwann cell death by apoptosis and, subsequently, peripheral neuropathy.]. 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:17701891; 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:NP274337.RA9xHvz_UM10gwlDJ1NxYhTH5W_-F4Y01TvRbI5JeZ0pQ130_publicationInfo { this: dcterms:created "2014-10-02T12:34:34+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" . }