Back to search

Article

Heterozygous <i>MMACHC</i> burden variants are associated with higher circulating vitamin B12 in the <i>All of Us</i> Research Program

2026-06-04

Abstract excerpt

Heterozygous carriers of autosomal recessive disease variants are conventionally considered unaffected, yet population-scale genomic datasets reveal subclinical carrier phenotypes. MMACHC encodes a cobalamin-processing protein whose biallelic loss causes cobalamin C deficiency, an inborn error of intracellular cobalamin metabolism. We performed an unbiased quantitative phenome-wide association screen in All of U...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
c22337c2-f525-5839-8f0b-d47023cb356a
DOI
10.64898/2026.06.03.26354855
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Heterozygous <i>MMACHC</i> burden variants are associated with higher circulating vitamin B12 in the <i>All of Us</i> Research ProgramDOI 10.64898/2026.06.03.26354855
CobVar-a comprehensive resource of vitamin B12-associated genomic variants.Semantic proximity
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.Semantic proximity
Genetic disorders of vitamin B12metabolism: eight complementation groups – eight genesSemantic proximity
Estimation of the global burden of autosomal recessive rare inborn errors of metabolismSemantic proximity
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysisSemantic proximity
Phenome-wide association study of genetically predicted B vitamins and homocysteine biomarkers with multiple health and disease outcomes: analysis of the UK BiobankSemantic proximity
Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large DatasetsSemantic proximity
Genetic determinants influencing human serum metabolome among African Americans.Semantic proximity
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.Semantic proximity
Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.Semantic proximity
Functional Overlap of Inborn Errors of Immunity and Metabolism Genes Define T Cell Immunometabolic VulnerabilitiesSemantic proximity
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.Semantic proximity
Select a neighboring publication to make it the new centre.