Pathogenic variants that alter protein code often disrupt splicing

Nature Genetics 49, 848 (2017).
doi:10.1038/ng.3837

Authors: Rachel Soemedi, Kamil J Cygan, Christy L Rhine, Jing Wang, Charlston Bulacan, John Yang, Pinar Bayrak-Toydemir, Jamie McDonald & William G Fairbrother

Source: Nature Genetics - April 17, 2017 Category: Genetics & Stem Cells Authors: Rachel Soemedi Kamil J Cygan Christy L Rhine Jing Wang Charlston Bulacan John Yang Pinar Bayrak-Toydemir Jamie McDonald William G Fairbrother Tags: Article Source Type: research