@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c
> .
@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:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_head
{
this:
np:hasAssertion
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_assertion
;
np:hasProvenance
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_provenance
;
np:hasPublicationInfo
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_assertion
a
np:Assertion
.
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_provenance
a
np:Provenance
.
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_assertion
{
miriam-gene:2737
a
ncit:C16612
.
lld:C0265306
a
ncit:C7057
.
dgn-gda:DGN70dce27fccb521387338d0632d629e9f
sio:SIO_000628
miriam-gene:2737
,
lld:C0265306
;
a
sio:SIO_001121
.
}
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_provenance
{
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_assertion
dcterms:description
"[In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9302279
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP16917.RAg0rIKM8OTt81XygTBREZcsm_zLeiwBqDaPCIzUxka7c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:06+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" .
}