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Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

To determine the contribution of defective splicing in Autism Spectrum Disorders (ASD), the most common neurodevelopmental disorder, a high throughput Massively Parallel Splicing Assay (MaPSY) was employed and identified 42 exonic splicing mutants out of 725 coding de novo variants discovered in the...

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Detalles Bibliográficos
Autores principales:	Rhine, Christy L., Neil, Christopher, Wang, Jing, Maguire, Samantha, Buerer, Luke, Salomon, Mitchell, Meremikwu, Ijeoma C., Kim, Juliana, Strande, Natasha T., Fairbrother, William G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775188/ https://www.ncbi.nlm.nih.gov/pubmed/35051175 http://dx.doi.org/10.1371/journal.pgen.1009884

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