@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8
> .
@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:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_head
{
this:
np:hasAssertion
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_assertion
;
np:hasProvenance
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_assertion
a
np:Assertion
.
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_provenance
a
np:Provenance
.
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_assertion
{
miriam-gene:100293534
a
ncit:C16612
.
lld:C2936858
a
ncit:C7057
.
dgn-gda:DGN94ee7e6671ceabd133b0a66688dcc3ca
sio:SIO_000628
miriam-gene:100293534
,
lld:C2936858
;
a
sio:SIO_001121
.
}
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_provenance
{
dgn-np:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_assertion
dcterms:description
"[We speculate that the presence of the 6.8-kb insert in the human C4A and some C4B genes might largely be responsible for the great instability of this chromosomal region which leads to frequent duplications and deletions, some of which cause 21-hydroxylase deficiency.]. 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:2347361
;
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:NP1059062.RAP7j9hWpe__BWA_3HAr1VLr72dlRG8I19i3WauHxzof8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:46+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" .
}