@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog
> .
@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/v3.0.0/void/
> .
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_head
{
this:
np:hasAssertion
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_assertion
;
np:hasProvenance
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_provenance
;
np:hasPublicationInfo
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_assertion
a
np:Assertion
.
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_provenance
a
np:Provenance
.
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_assertion
{
miriam-gene:148738
a
ncit:C16612
.
lld:C0018995
a
ncit:C7057
.
dgn-gda:DGNfcdd08ce811e8d6cf83efb35327fd3ff
sio:SIO_000628
miriam-gene:148738
,
lld:C0018995
;
a
sio:SIO_001122
.
}
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_provenance
{
dgn-np:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_assertion
dcterms:description
"[We evaluated the genomic DNA of 241 Alabama white and 124 African American adults who reported no history of hemochromatosis or iron overload to detect HJV missense mutations I222N and G320V using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.]. 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:15610558
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP50046.RAVfge1WmMhlxct7kKxB5B49Rvnwj8RV3ROAhAmzSEFog130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:07+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}