@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk
> .
@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:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_head
{
this:
np:hasAssertion
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_assertion
;
np:hasProvenance
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_provenance
;
np:hasPublicationInfo
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_assertion
a
np:Assertion
.
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_provenance
a
np:Provenance
.
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGN070e18fe9bb885229e8e5ad697a9e884
sio:SIO_000628
miriam-gene:2332
,
lld:C0016667
;
a
sio:SIO_001121
.
}
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_provenance
{
dgn-np:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_assertion
dcterms:description
"[Expansion of an unstable (CGG)n repeat to over 200 triplets within the promoter region of the human FMR1 gene leads to extensive local methylation and transcription silencing, resulting in the loss of FMRP protein and the development of the clinical features of fragile X syndrome.]. 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:12659659
;
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:NP388680.RAoq8mD_sIp0ETzdkcD-kZGL6mCdjtW0CCYnX3RHqD1Sk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:41+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" .
}