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SINGLE-EXON-DELETIONS RESPONSIBLE FOR PERIPHERAL NEUROPATHIES. ARE YOU ABLE TO DETECT THEM?

Ioanna Pyromali,Nesrine Benslimane,Federica Miressi,Frederic Favreau,Pierre-Antoine Faye,Cyril Goizet,Leila Lazaro,Martine Vitry,Paco Derouault,Sylvie Bourthoumieu,Marie Husson,Franck Sturtz,Corinne Magdelaine,Anne-Sophie Lia

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2022）

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structural variants, single-exon-deletion, Charcot-Marie-Tooth, NGS, CovCopCan
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