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Multiple genetic variants at the <i>SLC30A8</i> locus affect local super-enhancer activity and influence pancreatic β-cell survival and function

2023-07-13

Abstract excerpt

Variants at the SLC30A8 locus are associated with type 2 diabetes (T2D) risk. The lead variant, rs13266634, encodes an amino acid change, Arg325Trp (R325W), at the C-terminus of the secretory granule-enriched zinc transporter, ZnT8. Although this protein-coding variant was previously thought to be the sole driver of T2D risk at this locus, recent studies have provided evidence for lowered expression of SLC30A8 m...

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Literature Corpus work
5ededd74-1ac3-5f45-b67a-a66b372a06b0
DOI
10.1101/2023.07.13.548906
Open publication

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Multiple genetic variants at the <i>SLC30A8</i> locus affect local super-enhancer activity and influence pancreatic β-cell survival and functionDOI 10.1101/2023.07.13.548906
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