@prefix orcid: <
http://orcid.org/
> .
@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs
> .
@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 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:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_head
{
this:
np:hasAssertion
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_assertion
;
np:hasProvenance
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_provenance
;
np:hasPublicationInfo
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_assertion
a
np:Assertion
.
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_provenance
a
np:Provenance
.
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_assertion
{
miriam-gene:7507
a
ncit:C16612
.
lld:C0268135
a
ncit:C7057
.
dgn-gda:DGN71daef12a46777653cb9279ecdd0c580
sio:SIO_000628
miriam-gene:7507
,
lld:C0268135
;
a
sio:SIO_001122
.
}
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_provenance
{
dgn-np:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_assertion
dc:description
"[A series of xeroderma pigmentosum group A cell lines from 19 patients and cell lines from 13 other family members were examined for XPA mutations to find previously unidentified mutations from American and European patients, to establish pedigrees in represented families, and to develop a database for XPA diagnosis.]. 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:9671271
;
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:NP9820.RAv-2Kb1DWtX6koGKlEffXmQYXZ9TTlfwLoH1zSmW_pqs130_publicationInfo
{
this:
dc:created
"2016-05-13T12:41:54+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}