@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44
> .
@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/v3.0.0/void/
> .
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_head
{
this:
np:hasAssertion
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_assertion
;
np:hasProvenance
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_provenance
;
np:hasPublicationInfo
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_assertion
a
np:Assertion
.
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_provenance
a
np:Provenance
.
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_assertion
{
miriam-gene:7291
a
ncit:C16612
.
lld:C0001193
a
ncit:C7057
.
dgn-gda:DGNd69e1e7f0cd3a8ada744b2c5dd9ea596
sio:SIO_000628
miriam-gene:7291
,
lld:C0001193
;
a
sio:SIO_001121
.
}
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_provenance
{
dgn-np:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_assertion
dcterms:description
"[Advances in gene discovery have shown that craniosynostosis syndromes delineated on clinical bases, with the possible exception of Apert syndrome, are genetically heterogeneous, and mutations have been found in fibroblast growth factor receptors (FGFR) 1, 2, 3 and TWIST.]. 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:12884424
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP762133.RAf7q4v0NQv5fn0S3GNoYsRPlrBP6j0MrcWpfBYjV7H44130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:20+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}