GENETIC ENCYCLOPEDIA
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disease: Beta-hydroxyisobutyryl-CoA deacylase deficiency

id385
nameBeta-hydroxyisobutyryl-CoA deacylase deficiency
variant-disease NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) AND Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.4(HIBCH):c.220-9T>G AND Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) AND Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) AND Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) AND Beta-hydroxyisobutyryl-CoA deacylase deficiency
... 12 more