@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU
> .
@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:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_head
{
this:
np:hasAssertion
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_assertion
;
np:hasProvenance
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_provenance
;
np:hasPublicationInfo
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_assertion
a
np:Assertion
.
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_provenance
a
np:Provenance
.
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_assertion
{
miriam-gene:7291
a
ncit:C16612
.
lld:C0010278
a
ncit:C7057
.
dgn-gda:DGNf489bd1699f6bbf3e0ffb8059af90bdf
sio:SIO_000628
miriam-gene:7291
,
lld:C0010278
;
a
sio:SIO_001121
.
}
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_provenance
{
dgn-np:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_assertion
dcterms:description
"[Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers.]. 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:24127277
;
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:NP762205.RABhrNIPWQWiAen0prsM_bwLo0klhgb0ns6ThcKqe-LMU130_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" .
}