Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X

作者：Anam Nayab, Qamre Alam, Othman R. Alzahrani, Ranjha Khan, Sara Sarfaraz, Alrayan Abass Albaz, Misbahuddin M. Rafeeq, Ziaullah M. Sain, Ahmed Waqas, Muhammad Umair · 发表于：European Journal of Medical Genetics · 年份：2021 · DOI：10.1016/j.ejmg.2021.104283 · 被引用次数：11 · 研究领域：Glycogen Storage Diseases and Myoclonus、Biological Research and Disease Studies、Genomics and Rare Diseases