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A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

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Description scientific article published on 8 July 2015
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author: Karine Siquier-pernet  Isabelle Desguerre  Florine Verny  Sébastien Moutton  Marlene Rio  Jose Luis Rosa  Lam S Nguyen  Valérie Cormier-Daire  Laurence Colleaux  Nathalie Boddaert  Taiane Schneider 

Publication date July 8, 2015
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