@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k
> .
@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:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_head
{
this:
np:hasAssertion
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion
;
np:hasProvenance
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_provenance
;
np:hasPublicationInfo
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion
a
np:Assertion
.
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_provenance
a
np:Provenance
.
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGN5e6de8601b6341805138d8b470d25a7d
sio:SIO_000628
miriam-gene:2332
,
lld:C0016667
;
a
sio:SIO_001121
.
}
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_provenance
{
dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion
dcterms:description
"[In order to characterize the dynamics of CGG repeat instability at the fragile X syndrome locus (FMR1 gene), we have used small pool PCR to estimate the mutation rate within germline (sperm) and somatic tissue (leukocytes) of two normal males, one carrying the most common 29 CGG repeats allele, the other carrying a borderline normal-premutated allele of 55 repeats.]. 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:8776598
;
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:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:01+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" .
}