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Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Zhiwen Xu,Wing-Sze Lo,David B. Beck,Luise A. Schuch,Monika Olahova,Robert Kopajtich,Yeeting E. Chong,Charlotte L. Alston,Elias Seidl,Liting Zhai,Ching-Fun Lau, Donna Timchak,Charles A. LeDuc,Alain C. Borczuk,Andrew F. Teich,Jane Juusola, Christina Sofeso,Christoph Mueller,Germaine Pierre,Tom Hilliard,Peter D. Turnpenny,Matias Wagner,Matthias Kappler,Frank Brasch, John Paul Bouffard,Leslie A. Nangle,Xiang-Lei Yang,Mingjie Zhang,Robert W. Taylor,Holger Prokisch,Matthias Griese,Wendy K. Chung,Paul Schimmel

AMERICAN JOURNAL OF HUMAN GENETICS（2018）

Cited 45|Views36
Key words
tRNA synthetase,exome sequencing,bi-allelic mutation,non-coding variant,missense mutation,multi-system disease,cerebral calcifications,cholesterol pneumonitis,interstitial lung disease,non-canonical function
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