@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ
> .
@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:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_head
{
this:
np:hasAssertion
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion
;
np:hasProvenance
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion
a
np:Assertion
.
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_provenance
a
np:Provenance
.
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion
{
miriam-gene:4488
a
ncit:C16612
.
lld:C0175699
a
ncit:C7057
.
dgn-gda:DGN2571bf9ae8259f37609478ab474d124c
sio:SIO_000628
miriam-gene:4488
,
lld:C0175699
;
a
sio:SIO_001121
.
}
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_provenance
{
dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion
dcterms:description
"[However, the absence of MSX2 mutations in some of the FPP patients analysed and the presence of FPP associated with chromosome 11p deletions in DEFECT 11 (OMIM 601224) patients or associated with Saethre-Chotzen syndrome suggests genetic heterogeneity for this disorder.]. 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:11106354
;
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:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:04+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" .
}