@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA
> .
@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:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_head
{
this:
np:hasAssertion
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_assertion
;
np:hasProvenance
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_provenance
;
np:hasPublicationInfo
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_assertion
a
np:Assertion
.
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_provenance
a
np:Provenance
.
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_assertion
{
miriam-gene:1244
a
ncit:C16612
.
lld:C0022350
a
ncit:C7057
.
dgn-gda:DGN3bb3c0a0ce7b433123607a7cb0aa7aa5
sio:SIO_000628
miriam-gene:1244
,
lld:C0022350
;
a
sio:SIO_001122
.
}
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_provenance
{
dgn-np:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_assertion
dcterms:description
"[FVII deficiency in both populations is caused by a founder A244V mutation in the F7 gene and DJS is caused by two founder mutations, I1173F and R1150H in the MRP2 gene that are specific for Iranian and Moroccan Jewish patients, respectively.]. 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:17287630
;
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:NP318189.RASemSB0xSgbFWeA-a0ONveOymgt_vvXw3nnfSorWUNpA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:43+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" .
}