@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag
> .
@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:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_head
{
this:
np:hasAssertion
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_assertion
;
np:hasProvenance
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_provenance
;
np:hasPublicationInfo
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_assertion
a
np:Assertion
.
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_provenance
a
np:Provenance
.
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_assertion
{
miriam-gene:30813
a
ncit:C16612
.
lld:C0339284
a
ncit:C7057
.
dgn-gda:DGN94a6023676654f064a24201bfd306ddb
sio:SIO_000628
miriam-gene:30813
,
lld:C0339284
;
a
sio:SIO_001121
.
}
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_provenance
{
dgn-np:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_assertion
dcterms:description
"[Here, we report a heterozygous frameshift mutation in TCF8 that segregates with PPCD in the family used to map PPCD3 and four different heterozygous nonsense and frameshift mutations in TCF8 in four other PPCD probands.]. 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:16252232
;
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:NP235852.RAvR2OOWSx2xHVhPD9p5Tz85ugNO03wSeBm1v18zcQ4Ag130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:12+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" .
}