De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (vol 144, pg 411, 2020)
Korbinian M. Riedhammer, Sylvia Stockler,Rafal Ploski, Maren Wenzel,Burkhard Adis-Dutschmann, Uwe Ahting,Bader Alhaddad,Astrid Blaschek,Tobias B. Haack, Robert Kopajtich,Jessica Lee,Victor Murcia Pienkowski,Agnieszka Pollak,Krystyna Szymanska,Maja Tarailo-Graovac,Robin van der Lee,Clara D. van Karnebeek,Thomas Meitinger,Ingeborg Krageloh-Mann,Katharina Vill BRAIN（2021）
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