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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression

Sachi Tokunaga1, Hideki Shimomura2, Naoko Taniguchi2

  • 1Department of Pediatrics, Hyogo Medical University School of Medicine, Nishinomiya, Hyogo, Japan. sa-tokunaga@hyo-med.ac.jp.

Human Genome Variation
|January 5, 2024
PubMed

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