Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei Wen Chiang, Juan Wang, Yang Chen, Quan Fu, Jing Zhong, Yanhua Chen, Xin Yi, Renhua Wu, Haixue Gan, Yong Shi, Yanling Chen, Christopher Barnett, Dianna Wheaton, Megan Day, Joanne Sutherland, Elise Heon, Richard G. Weleber, Luis Alexandre Rassi Gabriel, Peikuan Cong, Kuanghsiang ChuangSheng Ye, Juliana Maria Ferraz Sallum, Ming Qi

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Medicine & Life Sciences