@prefix dcterms: .
@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:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_head {
this: np:hasAssertion dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_assertion;
np:hasProvenance dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_provenance;
np:hasPublicationInfo dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_publicationInfo;
a np:Nanopublication .
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_assertion a np:Assertion .
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_provenance a np:Provenance .
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_assertion {
miriam-gene:5354 a ncit:C16612 .
lld:C0205711 a ncit:C7057 .
dgn-gda:DGN61650e1cd65e34294b1b6bb1df17a20d sio:SIO_000628 miriam-gene:5354, lld:C0205711;
a sio:SIO_001122 .
}
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_provenance {
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_assertion dcterms:description
"[Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%; complete PLP-gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:10417279;
prov:wasDerivedFrom dgn-void:uniprot-2016;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP290.RAzQkH7_py5nUzaUEeyE24TTaiC7l9YRbImE_ZpAVrKQ0130_publicationInfo {
this: dcterms:created "2016-05-13T12:41:50+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" .
}