@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o
> .
@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:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_head
{
this:
np:hasAssertion
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_assertion
;
np:hasProvenance
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_provenance
;
np:hasPublicationInfo
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_assertion
a
np:Assertion
.
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_provenance
a
np:Provenance
.
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_assertion
{
miriam-gene:1605
a
ncit:C16612
.
lld:C0020255
a
ncit:C7057
.
dgn-gda:DGN9fa752b5621bd9535aada9ba658b4f7f
sio:SIO_000628
miriam-gene:1605
,
lld:C0020255
;
a
sio:SIO_001121
.
}
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_provenance
{
dgn-np:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_assertion
dcterms:description
"[Here we report that mice with epiblast-specific loss of dystroglycan develop brain and eye defects that broadly resemble the clinical spectrum of the human disease, including aberrant neuron migration, hydrocephalus, and malformations of the anterior and posterior chambers of the eye.]. 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:18923033
;
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:NP446228.RAbnef43H-LpQhRB4adS9uVE_jHUfLoE_V8oRyVEFei9o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:26+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" .
}