dgn-np:NP377149.RABfw9c5dEhJISRhaPQnrK4x2vXJPFTpt1TxkR1K1YLgU130_provenance {
dgn-np:NP377149.RABfw9c5dEhJISRhaPQnrK4x2vXJPFTpt1TxkR1K1YLgU130_assertion dc:description "[There are presently five known clinical phenotypes for MSUD, i.e., classic, intermediate, intermittent, thiamin-responsive, and dihydrolipoamide dehydrogenase (E3)-deficient, based on severity of the disease, response to thiamin therapy, and the gene locus affected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_literature ;
sio:SIO_000772 miriam-pubmed:16365091 ;
prov:wasDerivedFrom dgn-void:befree-20140225 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^
xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212 ;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}