Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
具有全面变异调用的基因组测序可识别出大部分患有共济失调和/或神经肌肉疾病的个体中的结构变异和重复扩增
期刊:Frontiers in Neurology
影响因子:2.7
doi:10.3389/fneur.2023.1170005
Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lin
