@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k
> .
@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#
> .
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_head
{
this:
np:hasAssertion
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion
;
np:hasProvenance
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_provenance
;
np:hasPublicationInfo
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion
a
np:Assertion
.
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_provenance
a
np:Provenance
.
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion
{
miriam-gene:54949
a
ncit:C16612
.
lld:C1333944
a
ncit:C7057
.
dgn-gda:DGN605d60387f39a6b703c0cc6ddfc330d1
sio:SIO_000628
miriam-gene:54949
,
lld:C1333944
;
a
sio:SIO_001121
.
}
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_provenance
{
dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion
dcterms:description
"[We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes.]. 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:20071235
;
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:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:23+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
pav:version
"v2.1.0" .
}