@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE
> .
@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:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_head
{
this:
np:hasAssertion
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion
;
np:hasProvenance
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_provenance
;
np:hasPublicationInfo
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion
a
np:Assertion
.
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_provenance
a
np:Provenance
.
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion
{
miriam-gene:9990
a
ncit:C16612
.
lld:C0795950
a
ncit:C7057
.
dgn-gda:DGNc75d0eb6b00ce68009c1d08885d3f833
sio:SIO_000628
miriam-gene:9990
,
lld:C0795950
;
a
sio:SIO_001121
.
}
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_provenance
{
dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion
dcterms:description
"[In contrast to the classic phenotype of the Andermann syndrome linked to truncating KCC3 mutations the phenotype and the course of the disease linked to the missense mutation appeared to be different (i.e., showing additional features like diffuse and widespread white matter 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:16606917
;
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:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:39+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" .
}