Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
This study included such patients from the authors' center and screened for the full-length sequence of ATP7B by next-generation sequencing. Newly identified synonymous and intronic variants were then analyzed with in silico tools.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Wan-Qing Xu, Rou-Min Wang, Yi Dong, Zhi-Ying Wu Tags: Regular article Source Type: research