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Exploring Rare Genetic Variation Underlying Metabolic Traits in the Fenland Cohort

By John Perry, Jack R A Murzynowski, Nicola D. Kerrison, Show 7 more authorsNick J. Wareham
Figure 1. Rare variants in CASQ1 have sex-specific associations with resting energy expenditure and adiposity.
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Figure 1. Rare variants in CASQ1 have sex-specific associations with resting energy expenditure and adiposity.Rare variants in CASQ1 have sex-specific associations with resting energy expenditure and adiposity.Perry et al., CC BY
Preprint: genetic association study of 11,458 peopleMechanisms
Paper

Abstract

Recent large-scale whole-exome sequencing (WES) studies in population biobanks have transformed our understanding of the role of rare protein coding on human health. However, the size and design of these biobanks limit deep phenotyping and genotype-targeted follow-up.

The paper

John Perry, Jack R A Murzynowski, Nicola D. Kerrison, Show 7 more authorsNick J. Wareham

University of Cambridge

Research Square, 14 Aug 2026, CC BY, Preprint, not peer-reviewed

doi.org/10.21203/rs.3.rs-10473668/v1

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