@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o
> .
@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:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_head
{
this:
np:hasAssertion
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_assertion
;
np:hasProvenance
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_provenance
;
np:hasPublicationInfo
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_assertion
a
np:Assertion
.
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_provenance
a
np:Provenance
.
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_assertion
{
miriam-gene:7428
a
ncit:C16612
.
lld:C0030421
a
ncit:C7057
.
dgn-gda:DGN1696ac6810dc0f15ed8514bde03d7578
sio:SIO_000628
miriam-gene:7428
,
lld:C0030421
;
a
sio:SIO_001122
.
}
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_provenance
{
dgn-np:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_assertion
dcterms:description
"[In contrast to other series, this cohort of Spanish patients showed many SDHB mutations. Sporadic cases with germline mutation are frequent and underline the importance of mutational screening of all PGL patients, allowing the identification of relatives ]. 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:20208144
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP119691.RAazDCBklc35B8-PwWdE7oh2yS4pPToi0oASWLeuiOl4o130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:47+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}