Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome
全外显子组测序揭示了三名患有VI型糖原贮积症和范可尼-比克尔综合征患者的新致病变异及其他发现
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2020.601566
Eghbali, Maryam; Fatemi, Kiyana Sadat; Salehpour, Shadab; Abiri, Maryam; Saei, Hassan; Talebi, Saeed; Olyaei, Nasrin Alipour; Yassaee, Vahid Reza; Modarressi, Mohammad Hossein
