@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs
> .
@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:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_head
{
this:
np:hasAssertion
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_assertion
;
np:hasProvenance
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_provenance
;
np:hasPublicationInfo
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_assertion
a
np:Assertion
.
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_provenance
a
np:Provenance
.
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_assertion
{
miriam-gene:8573
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGNf17d7dc3ea684ccb7b0684da567a58fc
sio:SIO_000628
miriam-gene:8573
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_provenance
{
dgn-np:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_assertion
dcterms:description
"[The results provide novel mutations and copy number aberrations of CASK, causing MR with MICPCH, and also demonstrate the similarity of the phenotypes of MR with MICPCH regardless of the CASK mutation.]. 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:21735175
;
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:NP907680.RAnv0p5tYPQnaseaALfiGIKL5Q2sPpMkIMJNw-lmGIXBs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:35+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" .
}