Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari i malformation
Daniel Duran, Sheng Chih Jin, Tyrone Despenza, Carol Nelson-Williams, Andrea G. Cogal, Elizabeth W. Abrash, Peter C. Harris, John C. Lieske, Serena J.E. Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L. Diluna, Murat Günel, Richard P. Lifton, Kristopher T. Kahle
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