A Biallelic Variant of the RNA Exosome Gene <i>EXOSC4</i> Causes Translational Defects Associated with a Neurodevelopmental Disorder.

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作者： Milo B,Fasken ^[1] ; Sara W,Leung ^[1] ; Lauryn A,Cureton ^[2] ; Maha,Al-Awadi ^[3] ; Adila,Al-Kindy ^[4] ; Sohail,Khoshnevis ^[5] ; Homa,Ghalei ^[5] ; Almundher,Al-Maawali ^[6] ; Anita H,Corbett ^[1]

作者单位： Department of Biology, Emory College of Arts and Sciences, Atlanta, GA USA 30322. ^[1] Department of Biochemistry, Emory University School of Medicine, Atlanta, GA USA 30322.;Graduate Program in Genetics and Molecular Biology, Emory University, Atlanta, GA 30322. ^[2] Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. ^[3] Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman. ^[4] Department of Biochemistry, Emory University School of Medicine, Atlanta, GA USA 30322. ^[5] Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.;Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman. ^[6]

关键词 EXOSC4 RNA Exosome RNA processing/decay neurodevelopmental disorder translation

DOI 10.1101/2023.10.24.23297197

PMID 37961665

发布时间 2024-08-13

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A Biallelic Variant of the RNA Exosome Gene <i>EXOSC4</i> Causes Translational Defects Associated with a Neurodevelopmental Disorder.

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A Biallelic Variant of the RNA Exosome Gene <i>EXOSC4</i> Causes Translational Defects Associated with a Neurodevelopmental Disorder.

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