@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g
> .
@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:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_head
{
this:
np:hasAssertion
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_assertion
;
np:hasProvenance
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_provenance
;
np:hasPublicationInfo
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_assertion
a
np:Assertion
.
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_provenance
a
np:Provenance
.
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_assertion
{
miriam-gene:2643
a
ncit:C16612
.
lld:C0575157
a
ncit:C7057
.
dgn-gda:DGNc73431a5f019f94075362162087c9147
sio:SIO_000628
miriam-gene:2643
,
lld:C0575157
;
a
sio:SIO_001121
.
}
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_provenance
{
dgn-np:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_assertion
dcterms:description
"[This case report documents an unusual presentation of dopa-responsive dystonia (DRD) in three siblings (two females, one male) which simulated cerebral palsy (CP) and describes the evolution of their spinal deformity in relation to growth and responsiveness to levodopa therapy.]. 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:14974638
;
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:NP272732.RAJLZnhe8GQnsku1TeheUVhh2e11Z5ihVOSKe43igqg_g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:33+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" .
}