@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E
> .
@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:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_head
{
this:
np:hasAssertion
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_assertion
;
np:hasProvenance
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_provenance
;
np:hasPublicationInfo
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_assertion
a
np:Assertion
.
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_provenance
a
np:Provenance
.
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0040822
a
ncit:C7057
.
dgn-gda:DGN35ca505ac1c0efe3d1dd4d28d8d31568
sio:SIO_000628
miriam-gene:2477
,
lld:C0040822
;
a
sio:SIO_001121
.
}
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_provenance
{
dgn-np:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_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:NP417670.RAvPKhIjTPkNyFVEzV0jH_kG8ZW3K7QQg9m5I72YvUz8E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:08+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" .
}