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Literature summary for 1.1.1.178 extracted from

  • Ofman, R.; Ruiter, J.P.; Feenstra, M.; Duran, M.; Poll-The, B.T.; Zschocke, J.; Ensenauer, R.; Lehnert, W.; Sass, J.O.; Sperl, W.; Wanders, R.J.
    2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene (2003), Am. J. Hum. Genet., 72, 1300-1307.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining