@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I
> .
@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 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:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_head
{
this:
np:hasAssertion
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion
;
np:hasProvenance
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_provenance
;
np:hasPublicationInfo
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion
a
np:Assertion
.
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_provenance
a
np:Provenance
.
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion
{
miriam-gene:6223
a
ncit:C16612
.
lld:C2676137
a
ncit:C7057
.
dgn-gda:DGN42eb9b669d8266ed92f57c446d6947cd
sio:SIO_000628
miriam-gene:6223
,
lld:C2676137
;
a
sio:SIO_001122
.
}
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_provenance
{
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion
dc:description
"[Our data support the notion that, in addition to rare DBA patients with the deletion of one allele, the disease in certain other RPS19 mutant patients is because of RPS19 protein haplo-insufficiency.]. 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:15384984
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_publicationInfo
{
this:
dc:created
"2015-08-25T14:37:43+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}