Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

著者: Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song, Shalini N. Jhangiani, Jawid M. Fatih, Tomasz Gambin, Yavuz Bayram, Iván K. Chinn, Ender Karaca, Jaya Punetha, M. Cecilia Poli, Eric Boerwinkle, Chad A. Shaw, Jordan S. Orange, Richard A. Gibbs, Tuuli Lappalainen, James R. Lupski, Claudia M.B. Carvalho - The American Journal of Human Genetics 2018 被引用: 233