@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM
> .
@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:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_head
{
this:
np:hasAssertion
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_assertion
;
np:hasProvenance
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_provenance
;
np:hasPublicationInfo
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_assertion
a
np:Assertion
.
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_provenance
a
np:Provenance
.
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0010278
a
ncit:C7057
.
dgn-gda:DGNaceeb80a3735a2d2018525205a82c0d8
sio:SIO_000628
miriam-gene:2261
,
lld:C0010278
;
a
sio:SIO_001121
.
}
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_provenance
{
dgn-np:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_assertion
dcterms:description
"[There is phenotypic overlap with other craniosynostosis syndromes, and intragenic mutations in FGFR2 (fibroblast growth factor receptor 2) and FGFR3 (fibroblast growth factor receptor 3) have been demonstrated in the other conditions.]. 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:12116251
;
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:NP284077.RAVk1-ov3fl-CtGgLzpO1EqVOuYuEz4mScFO8S4kJZVZM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:40+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" .
}