@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do
> .
@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:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_head
{
this:
np:hasAssertion
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_assertion
;
np:hasProvenance
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_provenance
;
np:hasPublicationInfo
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_assertion
a
np:Assertion
.
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_provenance
a
np:Provenance
.
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_assertion
{
miriam-gene:6935
a
ncit:C16612
.
lld:C0339284
a
ncit:C7057
.
dgn-gda:DGNb3c24299e0ff1fa48e4b05a7b4592406
sio:SIO_000628
miriam-gene:6935
,
lld:C0339284
;
a
sio:SIO_001121
.
}
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_provenance
{
dgn-np:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_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:NP270894.RAkgx9-7poLkR3QH1EOPKiztqXNtuKDm5Z1nH5uNI9_Do130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:31+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" .
}