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Dominant Missense Variants in SREBF2 Are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities

Matthew J. Moulton, Kristhen Atala,Yiming Zheng,Debdeep Dutta,Dorothy K. Grange,Wen -Wen Lin,Daniel J. Wegner,Jennifer A. Wambach,Angela L. Duker,Michael B. Bober,Lisa Kratz,Carol A. Wise,Ila Oxendine,Anas Khanshour,Michael F. Wangler,Shinya Yamamoto,F. Sessions Cole,Jonathan Rios,Hugo J. Bellen

Genetics in Medicine（2024）

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关键词
Drosophila,Lipid droplet,S1P,SREBF1,SREBF2
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