A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

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作者
Weifeng Zhang
Zhiyong Liu
Yiming Lin
Ruiquan Wang
Jinglin Xu
Ying He
Fengfeng Zhang
Lianqiang Wu
Dongmei Chen
机构
[1] Quanzhou Maternity and Children’s Hospital,Department of Neonatal Intensive Care Unit
[2] Quanzhou Maternity and Children’s Hospital,Neonatal Disease Screening Center
[3] Xiamen Genokon Medical Technology Co.,undefined
[4] Ltd.,undefined
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gene; Synonymous variant; Cryptic splice site; Pulmonary surfactant; Lethal neonatal respiratory failure;
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