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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Christy L Rhine, Christopher Neil, Jing Wang, Samantha Maguire, Luke Buerer, Mitchell Salomon, Ijeoma C Meremikwu, Juliana Kim, Natasha T Strande, William G Fairbrother
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2022-01-01
Colecção:	PLoS Genetics
Acesso em linha:	https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009884&type=printable
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!