These articles from 2002 and 2006 describe two individuals with methylmalonic acidemia (MMA) cblB type who each harbor the same three unphased heterozygous variants: p.Ala135Thr, NM_052845.4:p.Arg191Trp, and NM_052845.4:p.Tyr219Cys. Here, CBLB is linked to methylmalonic acidemia.