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COMBINED EXOME SEQUENCING AND METABOLOMIC PROFILING IMPROVES SEQUENCE VARIANT INTERPRETATION AND DIAGNOSIS FOR INBORN ERRORS OF METABOLISM.

Joseph T. Alaimo,Leroy Hubert,Hongzheng Dai,Marcus Miller,Rui Xiao,Fan Xia,Weimin Bi,Magalie Leduc,Pengfei Liu,Magdalena Walkiewicz,V. Reid Sutton,Qin Sun,Christine M. Eng,Sarah H. Elsea,Yaping Yang

MOLECULAR GENETICS AND METABOLISM（2018）

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