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Clinical validation of RNA sequencing for Mendelian disorder diagnostics
Sen Zhao
Kristina Macakova
Jefferson C. Sinson
Hongzheng Dai
Jill Rosenfeld
Gladys E. Zapata
Shenglan Li
Patricia A. Ward
Christiana Wang
Chunjing Qu
Becky Maywald
Brendan Lee
Christine Eng
Pengfei Liu
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Abstract
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Version published to 10.1016/j.ajhg.2025.02.006
Apr 1, 2025
Version published to 10.1101/2024.08.15.24312057 on medRxiv
Aug 17, 2024
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