@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg
> .
@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/
> .
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_head
{
this:
np:hasAssertion
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_assertion
;
np:hasProvenance
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_provenance
;
np:hasPublicationInfo
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_assertion
a
np:Assertion
.
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_provenance
a
np:Provenance
.
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN4408cb85622e9c6b461d91f76dd9354e
sio:SIO_000628
miriam-gene:2332
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_provenance
{
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_assertion
dcterms:description
"[Despite the known relationship between FMR1 CGG repeat expansion and FMR1 silencing, the epigenetic modifications observed at the FMR1 locus, and the consequences of the loss of FMRP on human neurodevelopment and neuronal function remain poorly understood.]. 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:22022567
;
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 .
}
dgn-np:NP933208.RAkvVBkwAh7N9SfX_iJFNpvGLlZkclZyotfnc-6tM1SOg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:48+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}