@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M
> .
@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:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_head
{
this:
np:hasAssertion
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_assertion
;
np:hasProvenance
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_provenance
;
np:hasPublicationInfo
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_assertion
a
np:Assertion
.
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_provenance
a
np:Provenance
.
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0087012
a
ncit:C7057
.
dgn-gda:DGN01e009b73525266065d580540fb20cd6
sio:SIO_000628
miriam-gene:2332
,
lld:C0087012
;
a
sio:SIO_001121
.
}
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_provenance
{
dgn-np:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_assertion
dcterms:description
"[PCR amplification of CGG repeats in the FMR1 gene and a chart review of clinical features were performed for 286 male subjects who had non diagnostic genetic testing for spinocerebellar ataxia between November 1998 and October 2002 prior to widespread clinical testing of FXTAS.]. 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:18363164
;
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:NP345537.RAdoIi5AN9KyLFcoiwqxqRCeghO-Nx9FXalgeRtAaIn8M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:23+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" .
}