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Closing the gap between genotype and phenotype

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Making causative connections between genotypic and phenotypic variation is a major challenge for geneticists engaged in the study of human disease. A study drawing this connection for a type 1 diabetes risk locus now demonstrates the importance of focusing on specific quantitative traits and studying them in normal subjects.

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Figure 1: IL2RA (CD25) haplotypes regulate levels of expression of IL-2 receptor on memory CD4+ T cells.

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Gregersen, P. Closing the gap between genotype and phenotype. Nat Genet 41, 958–959 (2009). https://doi.org/10.1038/ng0909-958

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