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Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function
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 t...
Autores principales: | Hu, Ming, Kim, Innah, Morán, Ignasi, Peng, Weicong, Sun, Orien, Bonnefond, Amélie, Khamis, Amna, Bonas-Guarch, Silvia, Froguel, Philippe, Rutter, Guy A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369998/ https://www.ncbi.nlm.nih.gov/pubmed/37502937 http://dx.doi.org/10.1101/2023.07.13.548906 |
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