未登录A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis通过全外显子组测序和X染色体杂合性分析鉴定的一种新颖的镶嵌WDR45无义变体导致 β-螺旋桨蛋白相关的神经变性
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收藏Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingCetinkaya, Arda; Xiong, Jingwei Rachel; Vargel, Ibrahim; Kosemehmetoglu, Kemal; Canter, Halil Ibrahim; Gerdan, Omer Faruk; Longo, Nicola; Alzahrani, Ahmad; Camps, Mireia Perez; Taskiran, Ekim Zihni; Laupheimer, Simone; Botto, Lorenzo D.; Paramalingam, Eeswari; Gormez, Zeliha; Uz, Elif; Yuksel, Bayram; Ruacan, Sevket; Sagiroglu, Mahmut Samil; Takahashi, Tokiharu; Reversade, Bruno; Akarsu, Nurten Ayse 分享 收藏 分享 收藏 
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