@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_head
{
this:
np:hasAssertion
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_assertion
;
np:hasProvenance
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_provenance
;
np:hasPublicationInfo
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_assertion
a
np:Assertion
.
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_provenance
a
np:Provenance
.
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_assertion
{
miriam-gene:2235
a
ncit:C16612
.
lld:C0085605
a
ncit:C7057
.
dgn-gda:DGNe915f62050cd75b590109110a5b4cc74
sio:SIO_000628
miriam-gene:2235
,
lld:C0085605
;
a
sio:SIO_001121
.
}
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_provenance
{
dgn-np:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_assertion
dcterms:description
"[These results suggest that whereas the combination of a maternal IVS9+1a allele and a paternal IVS3-48c allele results in overt EPP, CpG methylation of the FECH gene promoter, likely inherited from the father, increases the severity of EPP, leading to fatal liver failure, as seen in the proband.]. 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:15358105
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP928775.RAkKPaHtKVLL5EvKhqVt3RUV5NPDAMP0JqXE8nhlTX0qM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:29+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}