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http://rdf.disgenet.org/nanopublications.trig#NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
dgn-np:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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dgn-np:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_assertion
a
np:Assertion
.
dgn-np:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_provenance
a
np:Provenance
.
dgn-np:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_publicationInfo
a
np:PublicationInfo
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{
miriam-gene:6023
a
ncit:C16612
.
lld:C0850497
a
ncit:C7057
.
dgn-gda:DGN9476680d376b3466e89824f831341c5f
sio:SIO_000628
miriam-gene:6023
,
lld:C0850497
;
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.
}
dgn-np:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_provenance
{
dgn-np:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_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:NP764299.RAX-ED6Oup_mqNoTJd-J2lSeTPymfSXOihA_CJ4iAxCPQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:42+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
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pav:authoredBy
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> , <
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> , <
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> , <
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> , <
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> ;
pav:createdBy
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pav:version
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