@prefix dc: .
@prefix orcid: .
@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:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_head {
this: np:hasAssertion dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion;
np:hasProvenance dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance;
np:hasPublicationInfo dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo;
a np:Nanopublication .
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion a np:Assertion .
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance a np:Provenance .
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion {
miriam-gene:2582 a ncit:C16612 .
lld:C0751161 a ncit:C7057 .
dgn-gda:DGNdbc42b03fa422158040c1a01ae0056c8 sio:SIO_000628 miriam-gene:2582, lld:C0751161;
a sio:SIO_001122 .
}
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance {
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion dc:description
"[These results are consistent with the apparently benign status of peripheral epimerase deficiency galactosemia, but leave open the question of why patients with these substitutions demonstrate GALE deficiency in their red blood cells.]. 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:15639193;
prov:wasDerivedFrom dgn-void:uniprot-20150221;
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-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo {
this: dc:created "2015-08-25T14:37:43+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v3.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}