Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits

Phenotypic heterogeneity is a common feature of monogenic neurodevelopmental disorders that can arise from differential severity of missense variants underlying disease, but how distinct alleles impact molecular mechanisms to drive variable disease presentation is not well understood. Here, we inves...

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Detalles Bibliográficos
Autores principales: Beard, Diana C., Zhang, Xiyun, Wu, Dennis Y., Martin, Jenna R., Hamagami, Nicole, Swift, Raylynn G., McCullough, Katherine B., Ge, Xia, Bell-Hensley, Austin, Zheng, Hongjun, Lawrence, Austin B., Hill, Cheryl A., Papouin, Thomas, McAlinden, Audrey, Garbow, Joel R., Dougherty, Joseph D., Maloney, Susan E., Gabel, Harrison W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002657/
https://www.ncbi.nlm.nih.gov/pubmed/36909558
http://dx.doi.org/10.1101/2023.02.27.530041

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