Article

Loss of function variant in SMIM1 is associated with reduced energy expenditure and weight gain

2022-01-24

Abstract excerpt

<title>Abstract</title> <p>Blood group antigens are the archetypal example of human genetic variation. Here, we characterised the functional metabolic consequences in individuals homozygous for a 17bp deletion in SMIM1 (rs566629828; minor allele frequency 0.0147) and thus lacking the protein defining the Vel blood group. Our analysis, in separate cohorts of SMIM1-/- individuals (UK Biobank, NHS Blood and Transpla...

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Literature Corpus work: 7dc2b8d8-70f8-5a9d-9cf0-01aaab229ffb
DOI: 10.21203/rs.3.rs-1239303/v1

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