A Massively Parallel Screen of 5′UTR Mutations Identifies Variants Impacting Translation and Protein Production in Neurodevelopmental Disorder Genes

De novo mutations cause a variety of neurodevelopmental disorders including autism. Recent whole genome sequencing from individuals with autism has shown that many de novo mutations also occur in untranslated regions (UTRs) of genes, but it is difficult to predict from sequence alone which mutations...

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Detalles Bibliográficos
Autores principales: Plassmeyer, Stephen P., Florian, Colin P., Kasper, Michael J., Chase, Rebecca, Mueller, Shayna, Liu, Yating, White, Kelli McFarland, Jungers, Courtney F., Djuranovic, Slavica Pavlovic, Djuranovic, Sergej, Dougherty, Joseph D.
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/PMC10635273/
https://www.ncbi.nlm.nih.gov/pubmed/37961498
http://dx.doi.org/10.1101/2023.11.02.23297961

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