@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo
> .
@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:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_head
{
this:
np:hasAssertion
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_assertion
;
np:hasProvenance
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_provenance
;
np:hasPublicationInfo
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_assertion
a
np:Assertion
.
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_provenance
a
np:Provenance
.
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_assertion
{
miriam-gene:6023
a
ncit:C16612
.
lld:C0011991
a
ncit:C7057
.
dgn-gda:DGN5801dcc66f5448c197878938fd8e8c13
sio:SIO_000628
miriam-gene:6023
,
lld:C0011991
;
a
sio:SIO_001121
.
}
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_provenance
{
dgn-np:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_assertion
dcterms:description
"[We report on a 12-year-old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium-sensor receptor.]. 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:19626344
;
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:NP587756.RAebXmewuGCvWxbfLnO-dvRPx8vYzmqa0FoKEGIUAOHYo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:53+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
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