@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI
> .
@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:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_head
{
this:
np:hasAssertion
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_assertion
;
np:hasProvenance
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_provenance
;
np:hasPublicationInfo
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_assertion
a
np:Assertion
.
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_provenance
a
np:Provenance
.
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_assertion
{
miriam-gene:2778
a
ncit:C16612
.
lld:C0014132
a
ncit:C7057
.
dgn-gda:DGN22de20077f9e77c46c187a19d47ec305
sio:SIO_000628
miriam-gene:2778
,
lld:C0014132
;
a
sio:SIO_001121
.
}
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_provenance
{
dgn-np:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_assertion
dcterms:description
"[To report on the mutation-specific restriction enzyme digest (MSRED) method using paraffin-embedded tissue as a means of detecting GNAS1 mutations in fibrous dysplasia (FD), and to determine if any of the reported GNAS1 mutations in endocrine neoplasms, not previously documented in FD, can be found in FD.]. 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:17493233
;
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:NP743253.RARg3kQOK-51WXDBuRO5QxDghkaBosnrpCqtRz8tO4fyI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:31+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: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" .
}