@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0
> .
@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:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_head
{
this:
np:hasAssertion
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_assertion
;
np:hasProvenance
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_provenance
;
np:hasPublicationInfo
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_assertion
a
np:Assertion
.
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_provenance
a
np:Provenance
.
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_assertion
{
miriam-gene:7291
a
ncit:C16612
.
lld:C0039075
a
ncit:C7057
.
dgn-gda:DGNd7ac9cd316d2782771323943923b3af0
sio:SIO_000628
miriam-gene:7291
,
lld:C0039075
;
a
sio:SIO_001121
.
}
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_provenance
{
dgn-np:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_assertion
dcterms:description
"[Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases.]. 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:9719378
;
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:NP529511.RAQ89Evue7UEeaUh8uyXNWWFkOJXIE8O2TzbqPMQlxEu0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:20+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" .
}