@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4
> .
@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:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_head
{
this:
np:hasAssertion
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_assertion
;
np:hasProvenance
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_provenance
;
np:hasPublicationInfo
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_assertion
a
np:Assertion
.
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_provenance
a
np:Provenance
.
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_assertion
{
miriam-gene:7531
a
ncit:C16612
.
lld:C0266449
a
ncit:C7057
.
dgn-gda:DGN01ac09d2979e93987a0787416f248fa0
sio:SIO_000628
miriam-gene:7531
,
lld:C0266449
;
a
sio:SIO_001121
.
}
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_provenance
{
dgn-np:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_assertion
dcterms:description
"[It is shown that YWHAE is the only brain expressed gene in the deleted region and that the other genes in the interval are unlikely to contribute to the brain malformation phenotype of this patient.]. 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:19635726
;
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:NP595880.RAec6nUEzFEHelOBO7LFrtgkpxsXvDWHqLaMai6nl0-B4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:58+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" .
}