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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, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ
Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409. (Link opens in a new window) PubMed (Link opens in a new window) Article

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