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 .
}