@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao
> .
@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:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_head
{
this:
np:hasAssertion
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_assertion
;
np:hasProvenance
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_provenance
;
np:hasPublicationInfo
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_assertion
a
np:Assertion
.
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_provenance
a
np:Provenance
.
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_assertion
{
miriam-gene:65055
a
ncit:C16612
.
lld:C0575081
a
ncit:C7057
.
dgn-gda:DGNd4a6d0669339a86a5ed4e63a9f739aa4
sio:SIO_000628
miriam-gene:65055
,
lld:C0575081
;
a
sio:SIO_001121
.
}
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_provenance
{
dgn-np:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_assertion
dcterms:description
"[The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsufficiency of which could explain some clinical features of this patient such as mental retardation, speech delay and gait abnormalities.]. 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:22062632
;
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:NP179458.RARiWq6A6PaBS3_2f55ty-hEwtighhjTMmMjdbZgxuvao130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:37+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" .
}