@prefix dc: .
@prefix orcid: .
@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:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_head {
this: np:hasAssertion dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_assertion;
np:hasProvenance dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_provenance;
np:hasPublicationInfo dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_publicationInfo;
a np:Nanopublication .
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_assertion a np:Assertion .
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_provenance a np:Provenance .
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_assertion {
miriam-gene:1811 a ncit:C16612 .
lld:C0267662 a ncit:C7057 .
dgn-gda:DGNe4c9abab876dc2f75b4e2a0a481049a7 sio:SIO_000628 miriam-gene:1811, lld:C0267662;
a sio:SIO_001122 .
}
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_provenance {
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_assertion dc:description
"[Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.]. 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:11524734;
prov:wasDerivedFrom dgn-void:uniprot-20150221;
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-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP2521.RA1Dzdes5amQpUq0pv7SGQymgwvhy7Q9NoHv2fJk9E5Og130_publicationInfo {
this: dc:created "2015-08-25T14:37:43+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 "v3.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}