@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI
> .
@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:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_head
{
this:
np:hasAssertion
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_assertion
;
np:hasProvenance
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_provenance
;
np:hasPublicationInfo
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_assertion
a
np:Assertion
.
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_provenance
a
np:Provenance
.
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_assertion
{
miriam-gene:2158
a
ncit:C16612
.
lld:C0008533
a
ncit:C7057
.
dgn-gda:DGNe588e363b4bb7a94604ad0ce9cbb26de
sio:SIO_000628
miriam-gene:2158
,
lld:C0008533
;
a
sio:SIO_001122
.
}
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_provenance
{
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_assertion
dcterms:description
"[To determine if the factor IX (FIX) germline mutational pattern in AmerIndians differs from the common and putative endogenous pattern, FIX gene mutations were characterized in an initial sample of 10 AmerIndian Peruvian patients with hemophilia B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9600455
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP9746.RAD4E-XanbDzHGdz3QWXYw63cvAebJjWxuDjvA3GWnPzI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:54+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" .
}