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References from MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort. Local targets link to admitted publications; unresolved targets remain external evidence.
The Mmachc gene is required for pre-implantation embryogenesis in the mouse
10.1016/j.ymgme.2014.05.002 · 2014 · External reference
Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells
10.1016/s0021-9258(19)86394-9 · 1979 · External reference
Analysis of homocysteine levels in carriers with MMACHC gene variants
10.1186/s13023-026-04468-2 · 2026 · External reference
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets
10.1371/journal.pgen.1003530 · 2013 · External reference
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
10.1038/s41588-026-02553-7 · 2026 · External reference
