@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:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_head {
this: np:hasAssertion dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_assertion;
np:hasProvenance dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_provenance;
np:hasPublicationInfo dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_publicationInfo;
a np:Nanopublication .
dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_assertion a np:Assertion .
dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_provenance a np:Provenance .
dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_assertion {
miriam-gene:7054 a ncit:C16612 .
lld:C2673535 a ncit:C7057 .
dgn-gda:DGNa5476ed38501c6450d8cfbffb277e975 sio:SIO_000628 miriam-gene:7054, lld:C2673535;
a sio:SIO_001122 .
}
dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_provenance {
dgn-np:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_assertion dc:description
"[To present a new family with tyrosine hydroxylase deficiency (THD) that presented with a new phenotype of predominant, levodopa-responsive myoclonus with dystonia due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation in the other allele, thus expanding the clinical and genetic spectrum of this disorder.]. 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:22815559;
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:NP1198.RAhGLo0zklyV1mBMyXQKWsYfz33d9KxZJsq2SxGXfYsZE130_publicationInfo {
this: dc:created "2015-08-25T14:37:42+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" .
}