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A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.
Journal of Genetics and Genomics ( IF 5.9 ) Pub Date : 2020-05-08 , DOI: 10.1016/j.jgg.2020.03.007 Jiaxin Li 1 , Yuqian Wang 2 , Xiaohui Zhu 2 , Yanli Nie 2 , Ying Kuo 2 , Shuo Guan 2 , Jin Huang 2 , Ying Lian 2 , Yangyu Zhao 2 , Rong Li 2 , Yuan Wei 1 , Jie Qiao 3 , Liying Yan 2
中文翻译：
FBN2的新型致病性突变与先天性挛缩蛛网膜畸形相关，可用于植入前遗传学诊断。
更新日期：2020-05-08
Journal of Genetics and Genomics ( IF 5.9 ) Pub Date : 2020-05-08 , DOI: 10.1016/j.jgg.2020.03.007 Jiaxin Li 1 , Yuqian Wang 2 , Xiaohui Zhu 2 , Yanli Nie 2 , Ying Kuo 2 , Shuo Guan 2 , Jin Huang 2 , Ying Lian 2 , Yangyu Zhao 2 , Rong Li 2 , Yuan Wei 1 , Jie Qiao 3 , Liying Yan 2
Affiliation
中文翻译：
FBN2的新型致病性突变与先天性挛缩蛛网膜畸形相关，可用于植入前遗传学诊断。
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