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16P Limitation of Short-Reads NGS Sequencing on Genomic DNA: Interest of Functional Studies in the Diagnosis of Congenital Ullrich Muscular Dystrophy

C. Metay, R. Ghanem, A. Toutain, A. Bloch, E. Blin,V. Jobic, T. Pham,E. Lejeune,J. Buratti,B. Keren,F. Ader,P. Richard

NEUROMUSCULAR DISORDERS（2024）

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