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the HLA-conferred type 1 diabetes risk. Multiple genome-wide association studies have identified a strong genetic linkage between the locus and type 1 diabetes (T1D), but how this leads to disease remains obscure. Here, we characterized the functional consequence of a novel coding mutation in a patient with T1D to gain further insight into how this impacts immune tolerance. We identified a 24-year-old individual with T1D and other autoimmune and inflammatory conditions. The proband and first-degree relatives were recruited for whole-exom
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