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Reanalysis of RNA Sequencing Data Ends Diagnostic Odyssey and Expands the Phenotypic Spectrum of Congenital Titinopathy

Lucy Mcnamee,Kelly Schoch,Alden Huang,Hane Lee,Lee-kai Wang,Edward C. Smith,Robert K. Lark,Anne F. Buckley,Vaidehi Jobanputra,Stanley F. Nelson,Vandana Shashi

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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Key words
exome sequencing,genome sequencing,rare diseases,RNA sequencing,undiagnosed diseases
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