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Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

Although each Mendelian Disorder of the Epigenetic Machinery (MDEM) has a different causative gene, there are shared disease manifestations. We hypothesize that this phenotypic convergence is a consequence of shared epigenetic alterations. To identify such shared alterations, we interrogate chromati...

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Detalles Bibliográficos
Autores principales: Luperchio, Teresa Romeo, Boukas, Leandros, Zhang, Li, Pilarowski, Genay, Jiang, Jenny, Kalinousky, Allison, Hansen, Kasper D, Bjornsson, Hans T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443249/
https://www.ncbi.nlm.nih.gov/pubmed/34463256
http://dx.doi.org/10.7554/eLife.65884

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