一种新的EIF2B5错义变异,在一个近亲伊朗家庭中发现,白质疾病消失,并简要回顾文献

P. Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, Y. Eshaghkhani, Meisam Babaei, Zahra Golchehre, Seyedeh Roksana Taheri, Sepideh Hasani, Mahdieh Taghizadeh, M. Keramatipour
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A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature
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