@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM
> .
@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:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_head
{
this:
np:hasAssertion
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_assertion
;
np:hasProvenance
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_provenance
;
np:hasPublicationInfo
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_assertion
a
np:Assertion
.
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_provenance
a
np:Provenance
.
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_assertion
{
miriam-gene:93983
a
ncit:C16612
.
lld:C0752203
a
ncit:C7057
.
dgn-gda:DGNe1eb145d259bcf69ca6adfe6fdc956cc
sio:SIO_000628
miriam-gene:93983
,
lld:C0752203
;
a
sio:SIO_001121
.
}
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_provenance
{
dgn-np:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_assertion
dcterms:description
"[To evaluate the frequency of familial focal dystonia in a French population presenting with PFD, we screened 197 patients (150 index cases and 47 affected family members) presenting focal primary dystonia for the GAG deletion in the DYT1 gene and analyzed linkage to the DYT6, DYT7, and DYT13 loci in those who presented a family history.]. 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:15726581
;
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:NP322361.RAIhNvU-OobMt-Iwfrmn5eRYEYteXzgbiO9va8kgcSUaM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:08+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" .
}