@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo
> .
@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:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_head
{
this:
np:hasAssertion
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_assertion
;
np:hasProvenance
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_provenance
;
np:hasPublicationInfo
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_assertion
a
np:Assertion
.
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_provenance
a
np:Provenance
.
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0087012
a
ncit:C7057
.
dgn-gda:DGNa4c787e879fc9cd63ef714b4f66fde69
sio:SIO_000628
miriam-gene:2477
,
lld:C0087012
;
a
sio:SIO_001121
.
}
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_provenance
{
dgn-np:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_assertion
dcterms:description
"[Since cerebellar ataxia is one of the main cardinal features, we performed FMR-1 premutation screening in 122 male patients, older than 50 years, who were referred to us for testing of the spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) genes and who were found to be negative.]. 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:15483640
;
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:NP279945.RAvarXzCOIH6gndhJbvJUdbym1UglNtE6jNPWdNW9QmMo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:38+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" .
}