@prefix dct: .
@prefix ns1: .
@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-gda: .
@prefix dgn-void: .
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_head {
this: np:hasAssertion ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_assertion;
np:hasProvenance ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_provenance;
np:hasPublicationInfo ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_publicationInfo;
a np:Nanopublication .
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_assertion a np:Assertion .
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_provenance a np:Provenance .
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_publicationInfo a np:PublicationInfo .
}
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_assertion {
miriam-gene:121391 a ncit:C16612 .
lld:C3151432 a ncit:C7057 .
dgn-gda:DGN7bbe0e9a3242fb3e73994db172ff5c94 sio:SIO_000628 miriam-gene:121391, lld:C3151432;
a sio:SIO_001122 .
}
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_provenance {
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_assertion dct:description
"[Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.]. 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:21188418;
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 .
}
ns1:NP6470.RACodTXeUIViU_0lwVqx65b_DS8oikfeTPXZ-LmIgcaDU130_publicationInfo {
this: dct:created "2016-05-13T12:41:52+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v4.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}