Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1457435.RAZpI8QWbSzBGz72eeUMN4hPAfG2aogV00YGtS_uzzlS8#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16037974 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Recently, we reported pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene as the cause of the severe phenotype of D-2-hydroxyglutaric aciduria in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.