@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs
> .
@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:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_head
{
this:
np:hasAssertion
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_assertion
;
np:hasProvenance
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_provenance
;
np:hasPublicationInfo
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_assertion
a
np:Assertion
.
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_provenance
a
np:Provenance
.
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_assertion
{
miriam-gene:112476
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGNbb0d45aee2e6c598c7f85373163bbb35
sio:SIO_000628
miriam-gene:112476
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_provenance
{
dgn-np:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_assertion
dcterms:description
"[We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases).]. 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:22623405
;
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:NP503589.RADOhIwcbTPYvCMOQTpsUEPMUaOzClYI00clcUjtBLMKs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:00+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" .
}