The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice
Li Fu(Hangzhou Dianzi University), Eric A. Pierce(Broad Institute), Erik Pearson(Institute of Human Genetics), Zhenglin Yang(Chinese Academy of Medical Sciences & Peking Union Medical College), Edwin M. Stone(Instituto da Visão), Kang Zhang(Johns Hopkins University), Anand Rajendran(Aravind Eye Hospital), Donita Garland(University of Pennsylvania), Dhananjay Shukla(Aravind Eye Hospital)
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