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686P Identification and Characterization of Actionable Deep Intron 8 IGHMBP2 Hotspot Pathogenic Variants Through Motor Neuron RNAseq and Whole Genome

S. Silverstein,S. Donkervoort, T. Cassini,F. Vetrini, E. Conboy, A. Comer, K. Treat, K. Liaqat, L. Mantcheva, A. Patankar,D. Bharucha-Goebel,A. Foley,K. Chao,S. Neuhaus,C. Grunseich,C. Bonnemann

Neuromuscular Disorders（2024）

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