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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome
scientific article published on 22 August 2018
Author/s
author: Mathilde Pacault, Marie Vincent, Thomas Besnard, Claire Beneteau, Sébastien Barbarot, Stéphane Bézieau
Work details
Publication date
August 22, 2018
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Language
English
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