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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Yuna Hirota1, Shuichiro Higo2, Tomoka Tabata2
1Department of Clinical Laboratory and Biomedical Sciences, Graduate School of Medicine, The University of Osaka, Suita, Osaka, Japan; Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Osaka, Suita, Osaka, Japan.
Loeys-Dietz syndrome (LDS) patients with TGFBR1 variants may experience transient cardiac dysfunction. This suggests a loss-of-function effect, guiding future heart failure management in LDS.
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