@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8
> .
@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:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_head
{
this:
np:hasAssertion
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_assertion
;
np:hasProvenance
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_provenance
;
np:hasPublicationInfo
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_assertion
a
np:Assertion
.
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_provenance
a
np:Provenance
.
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_assertion
{
miriam-gene:57526
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGNf72900e222512d8ff1d903b8b46095a1
sio:SIO_000628
miriam-gene:57526
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_provenance
{
dgn-np:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_assertion
dcterms:description
"[This should be considered when providing genetic counseling for couples who have one affected daughter as they may risk recurrence of affected daughters and having sons at risk of transmitting EFMR.]. 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:21519002
;
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:NP418233.RAAAfc5b7Lj-VDQwHnYsNJBGZL7-DGtV0Z3Q2Zr_dq_m8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:08+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" .
}