@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo
> .
@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:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_head
{
this:
np:hasAssertion
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_assertion
;
np:hasProvenance
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_provenance
;
np:hasPublicationInfo
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_assertion
a
np:Assertion
.
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_provenance
a
np:Provenance
.
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0235031
a
ncit:C7057
.
dgn-gda:DGN21df130da79430b01b5f87008073ccd0
sio:SIO_000628
miriam-gene:2477
,
lld:C0235031
;
a
sio:SIO_001121
.
}
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_provenance
{
dgn-np:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_assertion
dcterms:description
"[Should an FMR1 premutation be uncovered, this will allow patients to make informed reproductive decisions and help clinicians to properly diagnose family members who may have menstrual irregularity, developmental delay, or neurologic symptoms.]. 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:16275254
;
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:NP154244.RAsWEAR_vVsq-HF-FM0Bs5Oab-Bbs4DuHBAJORjK-2Ieo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:22+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" .
}