De Novo Stop-Loss Variants in CLDN11 Cause Hypomyelinating Leukodystrophy.
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 Kraegeloh-Mann,Katharina Vill Brain（2020）
关键词
CLDN11,hypomyelinating leukodystrophy,tight junction,exome,stop-loss
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