Autor: Ling Cai, Ralph J. DeBerardinis
-
MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
Heterozygous carriers of autosomal recessive disease variants are often considered clinically unaffected, yet population biobanks can reveal measurable carrier phenotypes. MMACHC (MIM: 609831) encodes an intracellular cobalamin-processing protein. Bi-a…
-
MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
Heterozygous carriers of autosomal recessive disease variants are often considered clinically unaffected, yet population biobanks can reveal measurable carrier phenotypes. MMACHC (MIM: 609831) encodes an intracellular cobalamin-processing protein. Bi-a…