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Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster
Sequence variants in cis-acting enhancers are important for polygenic disease, but their role in Mendelian disease is poorly understood. Redundancy between enhancers that regulate the same gene is thought to mitigate the pathogenic impact of enhancer mutations. Recent findings, however, have shown t...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cell Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426562/ https://www.ncbi.nlm.nih.gov/pubmed/35998583 http://dx.doi.org/10.1016/j.devcel.2022.07.014 |