SORD AND SORD2P INVERSION: LONG READ SEQUENCING IDENTIFIES A NOVEL GENETIC MECHANISM UNDERLYING INHERITED NEUROPATHY
Elisa Vegezzi,Arianna Manini,Stefano Facchini,Chiara Pisciotta,Adriana Rebelo, Jacquelyn Schatzman,Ricardo P. Schnekenberg,Riccardo Curro,Natalia Dominik,Stephanie Efthymiou,Tiffany Grider,Shawna M. E. Feely,Paola Saveri,Luca Crivellari,Stefania Magri,Franco Taroni,Matilde Laura,Mary M. Reilly,Michael E. Shy,Stephan Zuchner,Davide Pareyson,Andrea Cortese JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2024）
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Long read sequencing,optical genome mapping,SORD,SORD2P,inversion
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