Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_assertion wasGeneratedBy ECO_0000218 NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_assertion wasDerivedFrom uniprot-2016 NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_assertion SIO_000772 9784232 NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_assertion evidence source_evidence_curated NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.
- NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_assertion description "[Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9919.RAiVaxx39Mdh1ZlTihTNYh5B-IDlw1hak-SBVohKcC1VI130_provenance.