@prefix dc: .
@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 np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_head {
this: np:hasAssertion dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_assertion;
np:hasProvenance dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_provenance;
np:hasPublicationInfo dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_publicationInfo;
a np:Nanopublication .
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_assertion a np:Assertion .
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_provenance a np:Provenance .
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_assertion {
miriam-gene:5354 a ncit:C16612 .
lld:C0023520 a ncit:C7057 .
dgn-gda:DGN93e5618a095d24cb216fc7710f36ff6b sio:SIO_000628 miriam-gene:5354, lld:C0023520;
a sio:SIO_001122 .
}
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_provenance {
dgn-np:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_assertion dc:description
"[PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.]. 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:16416265;
prov:wasDerivedFrom dgn-void:gad-20130706;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP66234.RAcRvFeu1QDQwgPSP0c-xGf27cLIzJ0dZVCpdsLv49xrE130_publicationInfo {
this: dc:created "2014-10-02T12:32:31+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc: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" .
}