@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE
> .
@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:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_head
{
this:
np:hasAssertion
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_assertion
;
np:hasProvenance
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_provenance
;
np:hasPublicationInfo
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_assertion
a
np:Assertion
.
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_provenance
a
np:Provenance
.
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGNf6367346ec0cc8d9422fe3862712bb5f
sio:SIO_000628
miriam-gene:2477
,
lld:C0016667
;
a
sio:SIO_001121
.
}
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_provenance
{
dgn-np:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_assertion
dcterms:description
"[Fragile X syndrome (FXS) is caused mostly by expansion and subsequent methylation of the CGG repeat in the 5'UTR of the FMR1 gene, resulting in silencing of the gene, absence of FMRP and development of the FXS phenotype.]. 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:17971832
;
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:NP637938.RArAlSsO_7haeZOXTW2weC-SQi8v6aWJiNXeUZTsvQQxE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:34+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" .
}