Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion> ?p ?o ?g. }
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- NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion type Assertion NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_head.
- NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion wasGeneratedBy ECO_0000203 NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_provenance.
- NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion wasDerivedFrom befree-20140225 NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_provenance.
- NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion SIO_000772 10661862 NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_provenance.
- NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion evidence source_evidence_literature NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_provenance.
- NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_assertion description "[The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP227816.RAiLeKe6vlMG3oqanM4xjD_x6pfirKsnJ-foMAeWL8OTs130_provenance.