Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1020121.RACaDQDgtfk04NwfpDUAtaNCJ58L0HfKpuGJ5SuJQ71JM#assertion> ?p ?o ?g. }
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- assertion description "[Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23939262 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.