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In vitro and in silico evidence against a significant effect of the c.194G>A variant on pre-mRNA splicing.

作者信息

Wu Hao, Boulling Arnaud, Cooper David N, Li Zhao-Shen, Liao Zhuan, Chen Jian-Min, Férec Claude

机构信息

Department of Gastroenterology, Changhai Hospital, the Second Military Medical University, Shanghai, China.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

出版信息

Gut. 2017 Dec;66(12):2195-2196. doi: 10.1136/gutjnl-2017-313948. Epub 2017 Mar 20.

DOI:10.1136/gutjnl-2017-313948
PMID:28320769
Abstract
摘要

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Gut. 2017 Dec;66(12):2195-2196. doi: 10.1136/gutjnl-2017-313948. Epub 2017 Mar 20.
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Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay.
全长基因检测中 DGAT1 p.M435L 和 p.K232A 变异对前体 mRNA 剪接的影响分析。
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