@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E
> .
@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/v4.0.0/void/
> .
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_head
{
this:
np:hasAssertion
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_assertion
;
np:hasProvenance
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_provenance
;
np:hasPublicationInfo
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_assertion
a
np:Assertion
.
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_provenance
a
np:Provenance
.
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_assertion
{
miriam-gene:7046
a
ncit:C16612
.
lld:C3542024
a
ncit:C7057
.
dgn-gda:DGNe5a2810329316e86c9921a7173935ff2
sio:SIO_000628
miriam-gene:7046
,
lld:C3542024
;
a
sio:SIO_001121
.
}
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_provenance
{
dgn-np:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_assertion
dcterms:description
"[All the coding exons including adjacent intronic as well as 5' and 3' untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members.]. 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:23578328
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1068497.RAjvm4KLmKaGNk1HPW0xZN0HeGK_5HzPaK_aSNPvDGh1E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:50+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}