@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss
> .
@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/v3.0.0/void/
> .
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_head
{
this:
np:hasAssertion
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_assertion
a
np:Assertion
.
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_provenance
a
np:Provenance
.
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_assertion
{
miriam-gene:1280
a
ncit:C16612
.
lld:C0029410
a
ncit:C7057
.
dgn-gda:DGNe8d6f8c6f4f7264f00f5d8c0c356b1e8
sio:SIO_000628
miriam-gene:1280
,
lld:C0029410
;
a
sio:SIO_001122
.
}
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_provenance
{
dgn-np:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_assertion
dcterms:description
"[The p.Gly1170Ser mutation of COL2A1 in the family described is responsible for pathology confined to the hip joint, which presents as isolated precocious hip OA, AVN of the femoral head, or Legg-Calvé-Perthes disease.]. 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:18512791
;
prov:wasDerivedFrom
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP319433.RANOIEyCAvpYN3pE2P-JLu9OwnXX-5teWzIonVRvxR4ss130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:43+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
pav:authoredBy
<
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> , <
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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pav:version
"v3.0.0" .
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