@prefix orcid: .
@prefix dc: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-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 ;
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" .
}