@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI
> .
@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/v4.0.0/void/
> .
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_head
{
this:
np:hasAssertion
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_assertion
;
np:hasProvenance
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_provenance
;
np:hasPublicationInfo
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_assertion
a
np:Assertion
.
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_provenance
a
np:Provenance
.
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_assertion
{
miriam-gene:6392
a
ncit:C16612
.
lld:C1333993
a
ncit:C7057
.
dgn-gda:DGNf9dbf96485a4acbeac28b2cf6e19a4fc
sio:SIO_000628
miriam-gene:6392
,
lld:C1333993
;
a
sio:SIO_001121
.
}
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_provenance
{
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_assertion
dcterms:description
"[The presence of mutations within SDHB and SDHD in two of the three samples of familial PGLs and absence of mutations in sporadic cases is consistent with the significant contribution of these genes to familial but not sporadic PGL.]. 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:15479192
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
}
dgn-np:NP464149.RAALPqO5jVL8dbyXg2FauPnsTeyFe3h55Vma9gWUAFUyI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:15+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}