@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA
> .
@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:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_head
{
this:
np:hasAssertion
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion
;
np:hasProvenance
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_provenance
;
np:hasPublicationInfo
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion
a
np:Assertion
.
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_provenance
a
np:Provenance
.
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion
{
miriam-gene:1861
a
ncit:C16612
.
lld:C1997740
a
ncit:C7057
.
dgn-gda:DGN41b0f9231960e5f9b548ab43e39e6b71
sio:SIO_000628
miriam-gene:1861
,
lld:C1997740
;
a
sio:SIO_001121
.
}
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_provenance
{
dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion
dcterms:description
"[To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb.]. 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:11104212
;
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:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:52+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" .
}