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Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Xiao Feng,Claudia Cozma,Supansa Pantoom,Christina Hund,Katharina Iwanov,Janine Petters,Christin Voelkner,Claudia Bauer,Florian Vogel,Peter Bauer,Frank U. Weiss,Markus M. Lerch,Anne-Marie Knospe,Andreas Hermann,Moritz J. Frech,Jiankai Luo,Arndt Rolfs,Jan Lukas

International journal of molecular sciences（2019）

引用 4|浏览19
关键词
variant of unknown significance,lipid metabolism,pharmacological chaperone,liver disease
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