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A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease

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Description scientific article
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author: Markus Ritter  Alexandra Frohne  Reinhard Ramsebner  Thomas Parzefall  Christian Schöfer  Trevor Lucas  Klemens Frei 

Publication date April 30, 2014
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