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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Үндсэн зохиолчид:	Christy L Rhine, Christopher Neil, Jing Wang, Samantha Maguire, Luke Buerer, Mitchell Salomon, Ijeoma C Meremikwu, Juliana Kim, Natasha T Strande, William G Fairbrother
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Public Library of Science (PLoS) 2022-01-01
Цуврал:	PLoS Genetics
Онлайн хандалт:	https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009884&type=printable
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!