@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE
> .
@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/v3.0.0/void/
> .
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_head
{
this:
np:hasAssertion
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_assertion
;
np:hasProvenance
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_provenance
;
np:hasPublicationInfo
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_assertion
a
np:Assertion
.
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_provenance
a
np:Provenance
.
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_assertion
{
miriam-gene:9759
a
ncit:C16612
.
lld:C1862102
a
ncit:C7057
.
dgn-gda:DGN8cd2c6d7136f82b40c9d67b24ea78c8f
sio:SIO_000628
miriam-gene:9759
,
lld:C1862102
;
a
sio:SIO_001121
.
}
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_provenance
{
dgn-np:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_assertion
dcterms:description
"[Given that only about half of the patients with 2q37 deletions have BDE; we compared our patients with other patients carrying 2q37.3 deletions or HDAC4 mutations known from the literature to discuss the diagnostic relevance of the facial dysmorphism pattern in 2q37.3 deletion cases involving the HDAC4 gene.]. 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:23188045
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP830024.RAQZcSrIDNj2JW8Igf6OFWvA3v8PhXgTFPHT_oa2-gifE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:03+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}