A Protein-Truncating <i>HSD17B13</i> Variant and Protection from Chronic Liver Disease

S. Abul‐Husn, Noura; Cheng, Xiping; Li, Alexander; Xin, Yurong; Schurmann, Claudia; E. Stevis, Panayiotis; Liu, Yashu; Kozlitina, Julia; Stender, Stefan; Craig Wood, G.; Stepanchick, Ann; Still, Matthew; McCarthy, Shane; O’Dushlaine, Colm; S. Packer, Jonathan; Balasubramanian, Suganthi; Gosalia, Nehal; Esopi, David; Y. Kim, Sun; Mukherjee, Semanti; Lopez, Alexander; D. Fuller, Erin; S. Penn, John; Chu, Xin; Z. Luo, Jonathan; L. Mirshahi, Uyenlinh; J. Carey, David; D. Still, Christopher; D. Feldman, Michael; Small, Aeron; M. Damrauer, Scott; J. Rader, Daniel; Zambrowicz, Brian; C. Olson, William; Murphy, Andrew; B. Borecki, Ingrid; R. Shuldiner, Alan; G. Reid, Jeffrey; D. Overton, John; D. Yancopoulos, George; H. Hobbs, Helen; C. Cohen, Jonathan; Gottesman, Omri; M. Teslovich, Tanya; Baras, Aris; Mirshahi, Tooraj; Gromada, Jesper; E. Dewey, Frederick

doi:10.1056/nejmoa1712191

Public

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

Published in New England Journal of Medicine • Mar 21, 2018

Authors:

Noura S. Abul‐Husn

Xiping Cheng

Alexander Li

Abstract

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 lev...

Subject

Chronic liver disease

Disease

Computational biology

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