@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI
> .
@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:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_head
{
this:
np:hasAssertion
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_assertion
;
np:hasProvenance
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_provenance
;
np:hasPublicationInfo
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_assertion
a
np:Assertion
.
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_provenance
a
np:Provenance
.
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_assertion
{
miriam-gene:92170
a
ncit:C16612
.
lld:C0013421
a
ncit:C7057
.
dgn-gda:DGN00edf15f92dd1b484b256a1d3a616183
sio:SIO_000628
miriam-gene:92170
,
lld:C0013421
;
a
sio:SIO_001121
.
}
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_provenance
{
dgn-np:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_assertion
dcterms:description
"[The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement.]. 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:12552057
;
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:NP594001.RAmNkgmOGAJZUjK-BgnD7O0FIc-VWdZClsNLJyrpkxnbI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:57+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" .
}