@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss
> .
@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 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:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_head
{
this:
np:hasAssertion
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_assertion
;
np:hasProvenance
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_provenance
;
np:hasPublicationInfo
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_assertion
a
np:Assertion
.
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_provenance
a
np:Provenance
.
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGNa6beaa7b69cd1a111710414e6dd0ea83
sio:SIO_000628
miriam-gene:2477
,
lld:C0016667
;
a
sio:SIO_001122
.
}
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_provenance
{
dgn-np:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_assertion
dct:description
"[We have recently standardized and tested the diagnostic potential of a rapid antibody test on blood smears, based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes in patients with FXS.]. 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:15900569
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP60359.RAws68FqXsOrGKE-OrQGW9xORkgDXvGrlqZCACgn_1Fss130_publicationInfo
{
this:
dct:created
"2014-10-02T12:32:28+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}