@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM
> .
@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/v4.0.0/void/
> .
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_head
{
this:
np:hasAssertion
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_assertion
;
np:hasProvenance
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_provenance
;
np:hasPublicationInfo
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_assertion
a
np:Assertion
.
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_provenance
a
np:Provenance
.
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_assertion
{
miriam-gene:3930
a
ncit:C16612
.
lld:C2931048
a
ncit:C7057
.
dgn-gda:DGNa45938597fdc6c73bf482b118fdd0c45
sio:SIO_000628
miriam-gene:3930
,
lld:C2931048
;
a
sio:SIO_001121
.
}
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_provenance
{
dgn-np:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_assertion
dcterms:description
"[It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia.]. 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:21327084
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP873043.RAPlswl_Izm4cqYcXBYnzs8AcoVH2jaQyxl4jbhShjaWM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:20+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}