Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.
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Gordon, C., Lyonnet, S. Enhancer mutations and phenotype modularity. Nat Genet 46, 3–4 (2014). https://doi.org/10.1038/ng.2861
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DOI: https://doi.org/10.1038/ng.2861
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