@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg
> .
@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:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_head
{
this:
np:hasAssertion
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_assertion
;
np:hasProvenance
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_provenance
;
np:hasPublicationInfo
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_assertion
a
np:Assertion
.
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_provenance
a
np:Provenance
.
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_assertion
{
miriam-gene:8575
a
ncit:C16612
.
lld:C0458219
a
ncit:C7057
.
dgn-gda:DGN7e71dcecfb999bc92bc5429f4f60e21f
sio:SIO_000628
miriam-gene:8575
,
lld:C0458219
;
a
sio:SIO_001121
.
}
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_provenance
{
dgn-np:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_assertion
dcterms:description
"[Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS.]. 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:20066431
;
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:NP895075.RAUp9OsfkdeIxdy3H-YG1uAfWSe8rX8eFJSznoXn5JFvg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:10+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" .
}