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