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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. Manivannan SN, et al. Among authors: yamamoto s. Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409. Brain. 2022. PMID: 34788397 Free PMC article.
dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions.
Giagtzoglou N, Yamamoto S, Zitserman D, Graves HK, Schulze KL, Wang H, Klein H, Roegiers F, Bellen HJ. Giagtzoglou N, et al. Among authors: yamamoto s. J Cell Biol. 2012 Jan 9;196(1):65-83. doi: 10.1083/jcb.201106088. Epub 2012 Jan 2. J Cell Biol. 2012. PMID: 22213802 Free PMC article.
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