Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP474225.RAW0wNdYdZHnkA0M0oluxIXsulP6pR4BSclnF9WvefO4o#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 12696021 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.