@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE
> .
@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:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_head
{
this:
np:hasAssertion
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_assertion
;
np:hasProvenance
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_provenance
;
np:hasPublicationInfo
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_assertion
a
np:Assertion
.
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_provenance
a
np:Provenance
.
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_assertion
{
miriam-gene:2512
a
ncit:C16612
.
lld:C1833213
a
ncit:C7057
.
dgn-gda:DGNae2eecac4316dd5e1e543b63bdbe4815
sio:SIO_000628
miriam-gene:2512
,
lld:C1833213
;
a
sio:SIO_001121
.
}
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_provenance
{
dgn-np:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_assertion
dcterms:description
"[The high reliability of HRM in detecting known and new DNA variations indicate that this could be an effective and sensitive method for molecular scanning of mutations in the IRE of the FTL gene in patients presenting with either HHCS or unexplained hyperferritinemia.]. 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:20578964
;
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:NP821519.RAkLjKXF-XL4jbmKxvr0mKJF06KkFXwMJg_XoD68Li9WE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:57+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" .
}