%0 Journal Article
%T RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
%J -
%D 2018
%R https://doi.org/10.1038/s41436-018-0360-6
%X The diagnostic rate for Mendelian diseases by exome sequencing (ES) is typically 20¨C40%. The low rate is partly because ES misses deep-intronic or synonymous variants leading to aberrant splicing. In this study, we aimed to apply RNA sequencing (RNA-seq) to efficiently detect the aberrant splicings and their related variants
%U https://www.nature.com/articles/s41436-018-0360-6