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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

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Description scientific article published on 23 January 2015
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author: Ghada M Abdel-Salam  Raoul Heller  Eugen Boltshauser  Holger Thiele  Joseph G Gleeson  Peter Nürnberg  Janine Altmüller  Michaela Thoenes  Maha Zaki  Gudrun Nürnberg  Solaf Mohamed Elsayed 

Publication date January 23, 2015
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