A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

Bikash R. Pattnaik, Pawan K. Shahi, Meghan J. Marino, Xinying Liu, Nathaniel York, Simran Brar, John Chiang, De Ann M. Pillers, Elias I. Traboulsi

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27 Scopus citations

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Medicine & Life Sciences