Article
Germline Mutations in CIDEB and Protection against Liver Disease.
The New England journal of medicine - 28 Jul 2022
Verweij Niek, Haas Mary E, Nielsen Jonas B, Sosina Olukayode A, Kim Minhee, Akbari Parsa, De Tanima, Hindy George, Bovijn Jonas, Persaud Trikaldarshi, Miloscio Lawrence, Germino Mary, Panagis Lampros, Watanabe Kyoko, Mbatchou Joelle, Jones Marcus, LeBlanc Michelle, Balasubramanian Suganthi, Lammert Craig, Enhörning Sofia, Melander Olle, Carey David J, Still Christopher D, Mirshahi Tooraj, Rader Daniel J, Parasoglou Prodromos, Walls Johnathon R, Overton John D, Reid Jeffrey G, Economides Aris, Cantor Michael N, Zambrowicz Brian, Murphy Andrew J, Abecasis Goncalo R, Ferreira Manuel A R, Smagris Eriks, Gusarova Viktoria, Sleeman Mark, Yancopoulos George D, Marchini Jonathan, Kang Hyun M, Karalis Katia, Shuldiner Alan R, Della Gatta Giusy, Locke Adam E, Baras Aris, Lotta Luca A
Abstract excerpt
BACKGROUND: Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets. METHODS: We performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were...
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