@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM
> .
@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:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_head
{
this:
np:hasAssertion
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion
;
np:hasProvenance
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance
;
np:hasPublicationInfo
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion
a
np:Assertion
.
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance
a
np:Provenance
.
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion
{
miriam-gene:1448
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGN2e71d9eac32204f30ce560fb8a497467
sio:SIO_000628
miriam-gene:1448
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance
{
dgn-np:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_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-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:NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:59+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" .
}