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...

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Detalles Bibliográficos
Autores principales: Miguel-Escalada, Irene, Maestro, Miguel Ángel, Balboa, Diego, Elek, Anamaria, Bernal, Aina, Bernardo, Edgar, Grau, Vanessa, García-Hurtado, Javier, Sebé-Pedrós, Arnau, Ferrer, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2022
Materias:
Article
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

Internet

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

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