@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II
> .
@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:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_head
{
this:
np:hasAssertion
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_assertion
;
np:hasProvenance
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_provenance
;
np:hasPublicationInfo
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_assertion
a
np:Assertion
.
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_provenance
a
np:Provenance
.
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_assertion
{
miriam-gene:7319
a
ncit:C16612
.
lld:C0152021
a
ncit:C7057
.
dgn-gda:DGN722fdb5d7a1ef87734b83b5250bd95bd
sio:SIO_000628
miriam-gene:7319
,
lld:C0152021
;
a
sio:SIO_001121
.
}
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_provenance
{
dgn-np:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_assertion
dcterms:description
"[Because some characteristics, such as congenital heart disease and proximal placement of the thumb, were not described in the family reported previously, suggesting genes other than UBE2A within the deleted region to be responsible for those abnormalities.]. 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:20339384
;
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:NP841375.RAUY4uGJIPCrTey8T48H7r6a6A5jHiEk3ScniBh-b46II130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:34+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" .
}