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    1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes

    1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes by De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, de Rosso Giuliani Liane, Maldonado Maria José, Silva Wilson Araujo

    Published 2012-12-01
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