@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4
> .
@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:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_head
{
this:
np:hasAssertion
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_assertion
;
np:hasProvenance
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_provenance
;
np:hasPublicationInfo
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_assertion
a
np:Assertion
.
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_provenance
a
np:Provenance
.
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_assertion
{
miriam-gene:9759
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGNf13ffeac847181547797d17f36b79818
sio:SIO_000628
miriam-gene:9759
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_provenance
{
dgn-np:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_assertion
dcterms:description
"[We speculate that haploinsufficiency of HDAC4 is responsible for short stature, mental retardation and developmental delay, and haploinsufficiency of EFHD1 is most likely responsible for the phenotype of corpus callosum dysgenesis in 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:23431751
;
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:NP340244.RAmQYhJDqUaHE0B-lIJz48Ff_6coQzyoxq9LLfqhzBqw4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:20+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" .
}