Article
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
The New England journal of medicine - 22 Mar 2018
Abul-Husn Noura S, Cheng Xiping, Li Alexander H, Xin Yurong, Schurmann Claudia, Stevis Panayiotis, Liu Yashu, Kozlitina Julia, Stender Stefan, Wood G Craig, Stepanchick Ann N, Still Matthew D, McCarthy Shane, O'Dushlaine Colm, Packer Jonathan S, Balasubramanian Suganthi, Gosalia Nehal, Esopi David, Kim Sun Y, Mukherjee Semanti, Lopez Alexander E, Fuller Erin D, Penn John, Chu Xin, Luo Jonathan Z, Mirshahi Uyenlinh L, Carey David J, Still Christopher D, Feldman Michael D, Small Aeron, Damrauer Scott M, Rader Daniel J, Zambrowicz Brian, Olson William, Murphy Andrew J, Borecki Ingrid B, Shuldiner Alan R, Reid Jeffrey G, Overton John D, Yancopoulos George D, Hobbs Helen H, Cohen Jonathan C, Gottesman Omri, Teslovich Tanya M, Baras Aris, Mirshahi Tooraj, Gromada Jesper, Dewey Frederick E
Abstract excerpt
BACKGROUND: Elucidation of the genetic factors underlying chronic liver disease may reveal new therapeutic targets. METHODS: We used exome sequence data and electronic health records from 46,544 participants in the DiscovEHR human genetics study to identify genetic variants associated with serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Variants that were replicated in three...
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