@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A
> .
@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:NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
dgn-np:NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A130_provenance
a
np:Provenance
.
dgn-np:NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:10007
a
ncit:C16612
.
lld:C1853205
a
ncit:C7057
.
dgn-gda:DGN15b453a4c4660b38f4f48efe19ea5380
sio:SIO_000628
miriam-gene:10007
,
lld:C1853205
;
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.
}
dgn-np:NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A130_provenance
{
dgn-np:NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A130_assertion
dcterms:description
"[Here we review the clinical spectrum, biochemical defect and genetic pathogenesis of inherited GPI deficiency, the first described form of inherited, autosomal recessive disorder of GPI biosynthesis and outline the molecular basis of targeted therapy for this condition.]. 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:19168132
;
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 .
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dgn-np:NP753540.RA_BeUr1suhnzM1r0-ZF_hVKX8guEciJjTFQ_rEZ29M5A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:36+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
> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> ;
pav:createdBy
<
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> ;
pav:version
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dgn-void:disgenetrdf
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"v2.1.0" .
}