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Advantages and Pitfalls of an Extended Gene Panel for Investigating Complex Neurometabolic Phenotypes

Emma S. Reid,Apostolos Papandreou,Suzanne Drury,Christopher Boustred,Wyatt W. Yue,Yehani Wedatilake,Clare Beesley,Thomas S. Jacques,Glenn Anderson,Lara Abulhoul,Alex Broomfield,Maureen Cleary,Stephanie Grunewald,Sophia M. Varadkar,Nick Lench,Shamima Rahman,Paul Gissen,Peter T. Clayton,Philippa B. Mills

Brain（2016）

引用 33|浏览58
关键词
neurometabolic disorders,inborn errors of metabolism,heterogeneity,next-generation sequencing,gene panel
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