Pathogenic Variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Niccolò E Mencacci,Georgia Minakaki,Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf,Patrick Shannon,David Chitayat,Francesca Magrinelli, Wesley J Peng,Diptaman Chatterjee, Sara H Eldessouky,Julia Baptista, Tamas Marton,Julie Vogt, Juan Dario Ortigoza-Escobar, Loreto Martorell, Marta Gómez-Chiari,Ingrid M Wentzensen, Erik-Jan Kamsteeg,Maha S Zaki, Annarita Scardamaglia,Giovanni Zifarelli,Zuhair Nasser Al-Hassnan,Elka Miller,Shiri Shinar, Lova S Matsa, Sri Hari Chandan Appikonda,Michael Schwake,Mariasavina Severino,Henry Houlden,Shunmoogum A Patten,Juan S Bonifacino, Kailash P Bhatia,Dimitri Krainc medRxiv the preprint server for health sciences（2025）
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