@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw
> .
@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:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_head
{
this:
np:hasAssertion
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_assertion
;
np:hasProvenance
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_provenance
;
np:hasPublicationInfo
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_assertion
a
np:Assertion
.
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_provenance
a
np:Provenance
.
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_assertion
{
miriam-gene:2653
a
ncit:C16612
.
lld:C0751748
a
ncit:C7057
.
dgn-gda:DGN5c14844e5220148dff28576b59a588eb
sio:SIO_000628
miriam-gene:2653
,
lld:C0751748
;
a
sio:SIO_001121
.
}
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_provenance
{
dgn-np:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_assertion
dcterms:description
"[It is sometimes problematic to confirm the diagnosis of GE since it requires either invasive liver biopsy for measurement of GCS activity or exhaustive mutational screening of three GCS genes, GLDC, AMT, and GCSH.]. 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:21470805
;
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:NP357253.RAL3kFS5uQAFN-qeZyUWz_Bujixjphc9o8Ziu8u2JqQpw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:29+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" .
}