@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo
> .
@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:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_head
{
this:
np:hasAssertion
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_assertion
;
np:hasProvenance
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_provenance
;
np:hasPublicationInfo
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_assertion
a
np:Assertion
.
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_provenance
a
np:Provenance
.
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_assertion
{
miriam-gene:8170
a
ncit:C16612
.
lld:C0085215
a
ncit:C7057
.
dgn-gda:DGNfcc6db296665bb1c25b5c4b2c1600b72
sio:SIO_000628
miriam-gene:8170
,
lld:C0085215
;
a
sio:SIO_001121
.
}
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_provenance
{
dgn-np:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_assertion
dcterms:description
"[It occurs due to CGG expansion of more than 55 repeats at the 5'UTR (Xq 27.3), which is associated with gene silence resulting in mental retardation in males, and POF in female carriers.]. 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:19465673
;
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:NP750458.RAWtVZC2tFe35-WA6WiB1OOi9IVrzUgkqtqjYATsQ3fHo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:35+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" .
}