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A Novel Synonymous ABCA3 Variant Identified in a Chinese Family with Lethal Neonatal Respiratory Failure

Zhang Weifeng,Liu Zhiyong,Lin Yiming,Wang Ruiquan,Xu Jinglin,He Ying,Zhang Fengfeng,Wu Lianqiang,Chen Dongmei

BMC Medical Genomics（2021）

Cited 6|Views9
Key words
ABCA3 gene,Synonymous variant,Cryptic splice site,Pulmonary surfactant,Lethal neonatal respiratory failure
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