Pathogenicity of intronic and synonymous variants of ATP7B in Wilson's disease

This study included such patients from the authors ’ center and screened for the full-length sequence of ATP7B by next-generation sequencing (NGS). Newly identified synonymous and intronic variants were then analyzed with in silico tools.

Source: Journal of Molecular Diagnostics - November 4, 2022 Category: Pathology Authors: Wan-Qing Xu, Rou-Min Wang, Yi Dong, Zhi-Ying Wu Tags: Regular Article Source Type: research