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Results: 1

Authors: Huppke, Peter Brendel, Cornelia Kalscheuer, Vera Korenke, Georg Christoph
Citation: Huppke, Peter et al., Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 61-68
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