@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
> .
@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:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_head
{
this:
np:hasAssertion
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
;
np:hasProvenance
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
a
np:Assertion
.
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_provenance
a
np:Provenance
.
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
{
miriam-gene:554
a
ncit:C16612
.
lld:C1563705
a
ncit:C7057
.
dgn-gda:DGN0f94fc55fea6ba27ce1776bdbb25f015
sio:SIO_000628
miriam-gene:554
,
lld:C1563705
;
a
sio:SIO_001121
.
}
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_provenance
{
dgn-np:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
dcterms:description
"[We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities.]. 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:24026507
;
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:NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:09+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" .
}