@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_assertion
a
np:Assertion
.
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_provenance
a
np:Provenance
.
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_assertion
{
miriam-gene:4935
a
ncit:C16612
.
lld:C0342684
a
ncit:C7057
.
dgn-gda:DGN14a7b8ab3bf7788c83b370b300a8351a
sio:SIO_000628
miriam-gene:4935
,
lld:C0342684
;
a
sio:SIO_001121
.
}
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_provenance
{
dgn-np:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_assertion
dcterms:description
"[These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder.]. 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:11214907
;
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:NP230680.RA_zPtx_mIsdHIB9G4TvoTE_fVtoLaVDMJgzlVXuxiOuY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:09+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
"v2.1.0.0" .
dgn-void:disgenetrdf
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"v2.1.0" .
}