A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, Daniel G. ; Balasubramanian, Suganthi ; Frankish, Adam ; Huang, Ni ; Morris, James ; Walter, Klaudia ; Jostins, Luke ; Habegger, Lukas ; Pickrell, Joseph K. ; Montgomery, Stephen B. ; Albers, Cornelis A. ; Zhang, Zhengdong D. ; Conrad, Donald F. ; Lunter, Gerton ; Zheng, Hancheng ; Ayub, Qasim ; DePristo, Mark A. ; Banks, Eric ; Hu, Min ; Handsaker, Robert E. ; Rosenfeld, Jeffrey A. ; Fromer, Menachem ; Jin, Mike ; Mu, Xinmeng Jasmine ; Khurana, Ekta ; Ye, Kai ; Kay, Mike ; Saunders, Gary Ian ; Suner, Marie-Marthe ; Hunt, Toby ; Barnes, H. A. ; Amid, Clara ; Carvalho-Silva, Denise R. ; Bignell, Alexandra H. ; Snow, Catherine ; Yngvadottir, Bryndis ; Bumpstead, Suzannah ; Cooper, David N. ; Xue, Yali ; Romero, Irene Gallego ; Wang, Jun ; Li, Yingrui ; Gibbs, Richard A. ; McCarroll, Steven A. ; Dermitzakis, Emmanouil T. ; Pritchard, Jonathan K. ; Barrett, Jeffrey C. ; Harrow, Jennifer ; Hurles, Matthew E. ; Gerstein, Mark B. ; Tyler-Smith, Chris

Science (American Association for the Advancement of Science), 2012-02, Vol.335 (6070), p.823-828 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

Texto completo disponível