@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY
> .
@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:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_head
{
this:
np:hasAssertion
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_assertion
;
np:hasProvenance
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_provenance
;
np:hasPublicationInfo
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_assertion
a
np:Assertion
.
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_provenance
a
np:Provenance
.
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGN69753c22d4469205b8e8402ce701e4e0
sio:SIO_000628
miriam-gene:2332
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_provenance
{
dgn-np:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_assertion
dcterms:description
"[The early detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile X syndrome, the most common known cause of inherited intellectual disability and autism.]. 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:22903700
;
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:NP307457.RAdMcoI86EtRUfe_gFpjVtyXxdqfs5ulswhNQ5rROhDjY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:56+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" .
}