Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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." provenance.
- 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.