Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, Nursel H. Elcioglu, M. Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

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Medicine & Life Sciences