@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ
> .
@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:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_head
{
this:
np:hasAssertion
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_assertion
;
np:hasProvenance
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_assertion
a
np:Assertion
.
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_provenance
a
np:Provenance
.
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0234376
a
ncit:C7057
.
dgn-gda:DGN1603e8d7a34a43c179727274c041bb15
sio:SIO_000628
miriam-gene:2332
,
lld:C0234376
;
a
sio:SIO_001121
.
}
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_provenance
{
dgn-np:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_assertion
dcterms:description
"[Since male premutation carriers are relatively common in the general population, older men with ataxia and intention tremor should be screened for the FMR1 mutation, especially if these signs are accompanied by parkinsonism, autonomic dysfunction, or cognitive decline, regardless of family history.]. 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:14747503
;
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:NP429794.RA6yUTpi511fZ6L600UlAV50WNA0cxw3D_Dp168C9NcoQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:00+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}