@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA
> .
@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:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_head
{
this:
np:hasAssertion
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_assertion
;
np:hasProvenance
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_assertion
a
np:Assertion
.
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_provenance
a
np:Provenance
.
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_assertion
{
miriam-gene:778
a
ncit:C16612
.
lld:C3711543
a
ncit:C7057
.
dgn-gda:DGNe83584a0d5359a3fd400708087e64042
sio:SIO_000628
miriam-gene:778
,
lld:C3711543
;
a
sio:SIO_001121
.
}
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_provenance
{
dgn-np:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_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-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:NP1399288.RAuU0HGqB-a4yX2yqrDNhshlytyf1ucGMckNxUXB__8kA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:20+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: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" .
}