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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Human Molecular Genetics ( IF 3.5 ) Pub Date : 2020-02-04 , DOI: 10.1093/hmg/ddz307
Tyler F Beck 1 , Danielle Veenma 2, 3 , Oleg A Shchelochkov 4 , Zhiyin Yu 1 , Bum Jun Kim 1 , Hitisha P Zaveri 1 , Yolande van Bever 3 , Sunju Choi 5 , Hannie Douben 3 , Terry K Bertin 1 , Pragna I Patel 5 , Brendan Lee 1, 6 , Dick Tibboel 2 , Annelies de Klein 3 , David W Stockton 7, 8 , Monica J Justice 1 , Daryl A Scott 1, 9
Affiliation  

In the originally published version of this article it was indicated that the variant leading to the Frem1 allele was a c.2477T >A variant leading to p.Lys826*. It is actually leads to a p.Leu826*.

中文翻译:

FRAS1 相关细胞外基质 1 (FREM1) 的缺乏导致人类和小鼠先天性膈疝。

在本文最初发表的版本中,表明导致 Frem1 等位基因的变体是 c.2477T > A 导致 p.Lys826* 的变体。它实际上导致 p.Leu826*。
更新日期:2020-04-17
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