@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg
> .
@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:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_head
{
this:
np:hasAssertion
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_assertion
;
np:hasProvenance
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_provenance
;
np:hasPublicationInfo
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_assertion
a
np:Assertion
.
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_provenance
a
np:Provenance
.
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_assertion
{
miriam-gene:30061
a
ncit:C16612
.
lld:C0392514
a
ncit:C7057
.
dgn-gda:DGNe77ba6393705604717c265e9860d0771
sio:SIO_000628
miriam-gene:30061
,
lld:C0392514
;
a
sio:SIO_001122
.
}
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_provenance
{
dgn-np:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_assertion
dcterms:description
"[The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.]. 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:21411349
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP895943.RAWeC7W9dfmIgMNnsEylOmqUulsu5_6gNAmwmqUNbDnqg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:46+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}