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http://rdf.disgenet.org/resource/nanopub/NP1149901.RA1jdsEpWiJ95ZnYfZ_NSMa9Lig0eAwC_NXMOkLSuxpfg
> .
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http://rdf.disgenet.org/resource/nanopub/NP1149901.RA1jdsEpWiJ95ZnYfZ_NSMa9Lig0eAwC_NXMOkLSuxpfg#
> .
@prefix rdfs: <
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 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/
> .
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http://purl.org/ontology/wi/core#
> .
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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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v5.0.0/void/
> .
sub:head
{
this:
np:hasAssertion
sub:assertion
;
np:hasProvenance
sub:provenance
;
np:hasPublicationInfo
sub:publicationInfo
;
a
np:Nanopublication
.
}
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sio:SIO_000628
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,
lld:C0268414
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dcterms:description
"[Our findings: i) reveal that JPD can be associated with an activating mutation within TNFRSF11A, ii) expand the range and overlap of phenotypes among the Mendelian disorders of RANK activation, and iii) call for mutation analysis to improve diagnosis, prognostication, recurrence risk assessment, and perhaps treatment selection among the monogenic disorders of RANKL/OPG/RANK activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:25063546
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prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:BEFREE
pav:importedOn
"2017-02-19"^^
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 .
}
sub:publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
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sio:SIO_000983
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http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
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