@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04
> .
@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:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_head
{
this:
np:hasAssertion
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_assertion
;
np:hasProvenance
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_provenance
;
np:hasPublicationInfo
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_assertion
a
np:Assertion
.
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_provenance
a
np:Provenance
.
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_assertion
{
miriam-gene:2263
a
ncit:C16612
.
lld:C0332877
a
ncit:C7057
.
dgn-gda:DGNa55f488893c96671987983c1a8e10856
sio:SIO_000628
miriam-gene:2263
,
lld:C0332877
;
a
sio:SIO_001121
.
}
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_provenance
{
dgn-np:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_assertion
dcterms:description
"[Our data indicated that the P253R mutation in Fgfr2 directly affect intramembranous and endochondral ossification, which resulted in the premature closure of coronal sutures and growth retardation of long bones and cranial base.]. 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:18242159
;
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:NP545664.RA3llFU6TYToa9HlvKkrWwpWMMOwt6oAYtXfk1mu6_f04130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:29+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" .
}