@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo
> .
@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:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_head
{
this:
np:hasAssertion
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_assertion
;
np:hasProvenance
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_provenance
;
np:hasPublicationInfo
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_assertion
a
np:Assertion
.
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_provenance
a
np:Provenance
.
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_assertion
{
miriam-gene:60506
a
ncit:C16612
.
lld:C1848172
a
ncit:C7057
.
dgn-gda:DGN7588a5e68849ad9c8cca033e35d08a92
sio:SIO_000628
miriam-gene:60506
,
lld:C1848172
;
a
sio:SIO_001121
.
}
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_provenance
{
dgn-np:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_assertion
dcterms:description
"[The apparent clinical heterogeneity in X-linked CSNB reflects the recently described genetic heterogeneity in which the locus for complete CSNB (CSNB1) was mapped to Xp11.4, and the locus for incomplete CSNB (CSNB2) was refined within Xp11.23 (ref.]. 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:9662400
;
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:NP250847.RA_qnOXsezVz88cQWNpaMLCwQ5DaBnc2rkFdaZBGfTzMo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:20+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" .
}