@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:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_head {
this: np:hasAssertion dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_assertion;
np:hasProvenance dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_provenance;
np:hasPublicationInfo dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_publicationInfo;
a np:Nanopublication .
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_assertion a np:Assertion .
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_provenance a np:Provenance .
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_assertion {
miriam-gene:6584 a ncit:C16612 .
lld:C0342788 a ncit:C7057 .
dgn-gda:DGN7f3c6ac2b2e590c92f1134d304652202 sio:SIO_000628 miriam-gene:6584, lld:C0342788;
a sio:SIO_001122 .
}
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_provenance {
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_assertion dcterms:description
"[Novel organic cation transporter (OCTN2) is an organic cation/carnitine transporter, and two missense mutations, L352R and P478L, in OCTN2 have been identified as the cause for primary carnitine deficiency.]. 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:10559218;
prov:wasDerivedFrom dgn-void:uniprot-20130724;
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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}
dgn-np:NP6029.RAo38ctgR6RdhFZ1q9HjZ9z0GNc9tWH5whv2cUtRlaTXg130_publicationInfo {
this: dcterms:created "2014-10-02T12:32:00+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" .
}