@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_head
{
this:
np:hasAssertion
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_assertion
;
np:hasProvenance
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_provenance
;
np:hasPublicationInfo
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_assertion
a
np:Assertion
.
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_provenance
a
np:Provenance
.
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C1839780
a
ncit:C7057
.
dgn-gda:DGN90cbb8ac69402ea84cf12a43260c76d5
sio:SIO_000628
miriam-gene:2332
,
lld:C1839780
;
a
sio:SIO_001121
.
}
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_provenance
{
dgn-np:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_assertion
dcterms:description
"[The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria.]. 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:15947063
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP498681.RA43dbIv8iX70XRToDqdv5CwjS54w9KB-SIrXhUrOyPLY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:31+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:disgenetv3.0rdf
;
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
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dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}