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RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.

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第一作者: Wen-Bin,He
第一单位: Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.;National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, China.;Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China.
作者: Wen-Bin,He [1] ; Wen-Juan,Xiao [2] ; Cong-Ling,Dai [1] ; Yu-Rong,Wang [3] ; Xiu-Rong,Li [4] ; Fei,Gong [1] ; Lan-Lan,Meng [5] ; Chen,Tan [6] ; Si-Cong,Zeng [7] ; Guang-Xiu,Lu [8] ; Ge,Lin [1] ; Yue-Qiu,Tan [9] ; Hao,Hu [10] ; Juan,Du [11]
作者单位: Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.;National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, China.;Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China. [1] National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, China.;Hunan Guangxiu Hospital, Medical College of Hunan Normal University, Changsha, Hunan, China. [2] Hunan Guangxiu Hospital, Medical College of Hunan Normal University, Changsha, Hunan, China. [3] Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China. [4] Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.;Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China. [5] Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China. [6] Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Hunan Guangxiu Hospital, Medical College of Hunan Normal University, Changsha, Hunan, China. [7] National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, China.;Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China.;Hunan Guangxiu Hospital, Medical College of Hunan Normal University, Changsha, Hunan, China. [8] Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.;National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, China.;Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China.;Hunan Guangxiu Hospital, Medical College of Hunan Normal University, Changsha, Hunan, China. [9] Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China tandujuan@csu.edu.cn leonhu97@126.com.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China. [10] Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China tandujuan@csu.edu.cn leonhu97@126.com.;National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, China.;Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.;Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, China. [11]
DOI 10.1136/jmedgenet-2021-108013
PMID 35121647
发布时间 2022-11-20
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Journal of medical genetics

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