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Schematic representation of the full-length HADH gene (Reference sequence NM_005327) and a variant transcript (cDNA accession number B1826991). Exons are represented by boxes, and introns are denoted by lines. Hatched boxes represent coding regions which differ between the two transcripts, and white boxes represent UTRs. An arrow with a star points to the approximate position of the novel variant, c.709 + 39C>G (nomenclature relating to RefSeq NM_005327) identified in patient 9.
