@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI
> .
@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:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_head
{
this:
np:hasAssertion
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion
;
np:hasProvenance
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_provenance
;
np:hasPublicationInfo
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion
a
np:Assertion
.
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_provenance
a
np:Provenance
.
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion
{
miriam-gene:10564
a
ncit:C16612
.
lld:C0025958
a
ncit:C7057
.
dgn-gda:DGN315fc078b5274b263295ed72b4c0abd4
sio:SIO_000628
miriam-gene:10564
,
lld:C0025958
;
a
sio:SIO_001121
.
}
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_provenance
{
dgn-np:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_assertion
dcterms:description
"[The presence of periventricular heterotopia, acquired microcephaly and suspected recessive inheritance led to mutation analysis of ARFGEF2 in two affected siblings and their healthy consanguineous parents, after mutations in FLNA had been ruled out.]. 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:23755938
;
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:NP847373.RADvQ-cdk0Ms_Ak7KHUJ3k4vO8iROVTIPR7Y5Vi80RonI130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:14+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" .
}