@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ
> .
@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:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_head
{
this:
np:hasAssertion
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion
;
np:hasProvenance
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion
a
np:Assertion
.
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_provenance
a
np:Provenance
.
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion
{
miriam-gene:3081
a
ncit:C16612
.
lld:C0002066
a
ncit:C7057
.
dgn-gda:DGNc8248ff9094ae7d450a8e956c60f8c4f
sio:SIO_000628
miriam-gene:3081
,
lld:C0002066
;
a
sio:SIO_001121
.
}
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_provenance
{
dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion
dcterms:description
"[We show that HGO maps to the same location described for AKU, illustrate that HGO harbours missense mutations that cosegregate with the disease, and provide biochemical evidence that at least one of these missense mutations is a loss-of-function mutation.]. 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:8782815
;
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:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:01+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" .
}