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disease: Bifunctional peroxisomal enzyme deficiency

id924
nameBifunctional peroxisomal enzyme deficiency
variant-disease NM_000414.3(HSD17B4):c.973_1209del237 (p.Ala325_Lys403del) AND Bifunctional peroxisomal enzyme deficiency
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) AND Bifunctional peroxisomal enzyme deficiency
NM_000414.4(HSD17B4):c.-28C>T AND Bifunctional peroxisomal enzyme deficiency
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) AND Bifunctional peroxisomal enzyme deficiency
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) AND Bifunctional peroxisomal enzyme deficiency
... 124 more