Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion> ?p ?o ?g. }
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- NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion type Assertion NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_head.
- NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion description "[One pedigree, presented with prominent parkinsonism, was misdiagnosed as Parkinson's disease until a known mutation in GCH1 (GTP cyclohydrolase 1) gene (NM_000161.2: c.631_632delAT, p.Met211ValfsX38) was found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_provenance.
- NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion evidence source_evidence_literature NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_provenance.
- NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion SIO_000772 25181484 NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_provenance.
- NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion wasDerivedFrom befree-2016 NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_provenance.
- NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_assertion wasGeneratedBy ECO_0000203 NP1216201.RAWM--yPh74g5PzjwbTOavSQxw_1wEjAg5h9xSzx7_ZVI130_provenance.