@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM
> .
@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/v4.0.0/void/
> .
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{
this:
np:hasAssertion
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_assertion
a
np:Assertion
.
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_provenance
a
np:Provenance
.
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:55777
a
ncit:C16612
.
lld:C0018817
a
ncit:C7057
.
dgn-gda:DGN6ddf498a0db55cff33bb9a1f5db10ae3
sio:SIO_000628
miriam-gene:55777
,
lld:C0018817
;
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sio:SIO_001121
.
}
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_provenance
{
dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_assertion
dcterms:description
"[These results suggest that genetic alterations of MBD5 cause features of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in research and clinical diagnostic screening and highlighting the importance of chromatin remodeling in the etiology of these complex disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:21981781
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
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dgn-np:NP929338.RAPBLNz7aQ9VYE0wj0TZySHLHlvU3zYsVguA7tQJ6viTM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:46+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
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;
pav:authoredBy
<
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> , <
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
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"v4.0.0" .
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