@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U
> .
@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:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_head
{
this:
np:hasAssertion
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_assertion
;
np:hasProvenance
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_provenance
;
np:hasPublicationInfo
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_assertion
a
np:Assertion
.
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_provenance
a
np:Provenance
.
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN3c965b3e54d36ac945c56aa3a35842ca
sio:SIO_000628
miriam-gene:2477
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_provenance
{
dgn-np:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_assertion
dcterms:description
"[Because of the high prevalence of FMR1 premutation in the general population, the description and characterization of the FXTAS syndrome is of great interest as it may represent one of the more common monogenic causes of ataxia, tremor, and dementia.]. 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:17917121
;
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:NP359363.RATUcmBQbHWmIlj5_Vd_KrMZbPr6dR8LhoUeE8ls9De1U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:30+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" .
}