@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_assertion
;
np:hasProvenance
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_provenance
;
np:hasPublicationInfo
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_assertion
a
np:Assertion
.
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_provenance
a
np:Provenance
.
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0087012
a
ncit:C7057
.
dgn-gda:DGN6fc46ddb16338368afc6ef258cb5604c
sio:SIO_000628
miriam-gene:2477
,
lld:C0087012
;
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.
}
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_provenance
{
dgn-np:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_assertion
dcterms:description
"[The aim of this study was to determine the molecular basis of the disorder in patients suspected of spinocerebellar ataxias (SCAs) and search for premutation in the FMR1 gene causing FXTAS among patients in whom 9 SCA types were previously excluded.]. 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:19235102
;
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:NP576047.RAfX0TQ5YZhF-zZRQFp19h3Hxoir9woE7BT8Ol4-aAK-k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:47+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
<
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
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"v2.1.0" .
}