@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM
> .
@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:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_head
{
this:
np:hasAssertion
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_assertion
;
np:hasProvenance
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_provenance
;
np:hasPublicationInfo
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_assertion
a
np:Assertion
.
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_provenance
a
np:Provenance
.
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_assertion
{
miriam-gene:9759
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN74e4563943a92c3435429dd4f7a65131
sio:SIO_000628
miriam-gene:9759
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_provenance
{
dgn-np:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_assertion
dcterms:description
"[Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE).]. 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-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:NP271386.RAWSXjG4GyJnb7Gj_6z670Qtp6l0HBVzPTb1xair9pUdM130_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" .
}