Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
胆碱和乙醇胺转运蛋白FLVCR1的双等位基因变异是多种疾病谱的基础，涵盖从成人神经退行性疾病到严重发育障碍。
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doi:10.1101/2024.02.09.24302464
Calame, Daniel G; Wong, Jovi Huixin; Panda, Puravi; Nguyen, Dat Tuan; Leong, Nancy C P; Sangermano, Riccardo; Patankar, Sohil G; Abdel-Hamid, Mohamed; AlAbdi, Lama; Safwat, Sylvia; Flannery, Kyle P; Dardas, Zain; Fatih, Jawid M; Murali, Chaya; Kannan, Varun; Lotze, Timothy E; Herman, Isabella; Ammouri, Farah; Rezich, Brianna; Efthymiou, Stephanie; Alavi, Shahryar; Murphy, David; Firoozfar, Zahra; Nasab, Mahya Ebrahimi; Bahreini, Amir; Ghasemi, Majid; Haridy, Nourelhoda A; Goldouzi, Hamid Reza; Eghbal, Fatemeh; Karimiani, Ehsan Ghayoor; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Du, Haowei; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Marafi, Dana; Rodan, Lance; Isikay, Sedat; Rosenfeld, Jill A; Ramanathan, Subhadra; Staton, Michael; Kerby C Oberg; Clark, Robin D; Wenman, Catharina; Loughlin, Sam; Saad, Ramy; Ashraf, Tazeen; Male, Alison; Tadros, Shereen; Boostani, Reza; Abdel-Salam, Ghada M H; Zaki, Maha; Abdalla, Ebtesam; Manzini, M Chiara; Pehlivan, Davut; Posey, Jennifer E; Gibbs, Richard A; Houlden, Henry; Alkuraya, Fowzan S; Bujakowska, Kinga; Maroofian, Reza; Lupski, James R; Nguyen, Long Nam
