@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_head
{
this:
np:hasAssertion
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_assertion
;
np:hasProvenance
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_provenance
;
np:hasPublicationInfo
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_assertion
a
np:Assertion
.
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_provenance
a
np:Provenance
.
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_assertion
{
miriam-gene:51084
a
ncit:C16612
.
lld:C0268595
a
ncit:C7057
.
dgn-gda:DGN90258db7996c4d973a9abdc50a6364e6
sio:SIO_000628
miriam-gene:51084
,
lld:C0268595
;
a
sio:SIO_001121
.
}
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_provenance
{
dgn-np:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_assertion
dcterms:description
"[Using this technique, we identified mutations on both alleles in 48 patients with confirmed GDH deficiency, while no mutations were detected in other patients with clinical suspicion of GA1 but normal enzyme studies.]. 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:10699052
;
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:NP288190.RAXK2dEOEp2kBmWC-2TQFuc9ANaDfV0IY1HynV5qDgwgY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:44+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}