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Exploring the Potential Role of Disease-Causing Mutation in a Gene Desert: Duplication of Noncoding Elements 5 ’ of GRIA3 is Associated with GRIA3 Silencing and X-Linked Intellectual Disability 期刊论文
发表期刊: HUMAN MUTATION. 出版年: 2012, 卷号: 33, 期号: 2, 页码: 355-358
作者:  Bonnet, Celine;  Masurel-Paulet, Alice;  Khan, Asma Ali;  Beri-Dexheimer, Mylene;  Callier, Patrick;  Mugneret, Francine;  Philippe, Christophe;  Thauvin-Robinet, Christel;  Faivre, Laurence;  Jonveaux, Philippe
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intellectual disability  GRIA3  duplication  position effect