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An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

A. Segarra-Casas,V. Yepez,G. Demidov,S. Laurie,A. Esteve,J. Gagneur, Y. Parkhurst,R. Muni-Lofra,E. Harris,C. Marini-Bettolo,V. Straub,A. Topf

NEUROMUSCULAR DISORDERS（2024）

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Key words
Duchenne muscular dystrophy,female carrier,DMD,genetic diagnosis,RNA sequencing,whole genome sequencing,translocation
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