@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0
> .
@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:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_head
{
this:
np:hasAssertion
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion
;
np:hasProvenance
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_provenance
;
np:hasPublicationInfo
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion
a
np:Assertion
.
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_provenance
a
np:Provenance
.
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion
{
miriam-gene:212
a
ncit:C16612
.
lld:C0221018
a
ncit:C7057
.
dgn-gda:DGN9f62328911e2a5c76fa61cac13fe7af8
sio:SIO_000628
miriam-gene:212
,
lld:C0221018
;
a
sio:SIO_001121
.
}
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_provenance
{
dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion
dcterms:description
"[To determine the nature of the mutation in the ALAS2 gene causing XLSA in Cooley's original family, genomic DNAs were isolated from two affected hemizygotes, and each ALAS2 exon was PCR amplified and sequenced.]. 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:7949148
;
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:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:47+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" .
}