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THE FIRST TWO LARGE DELETIONS OF KIF5A RESPONSIBLE FOR CHARCOT-MARIE-TOOTH DISEASE, DETECTED USING COVCOPCAN SOFTWARE

Ioanna Pyromali,Alexandre Perani,Angelique Nizou,Nesrine Benslimane,Paco Derouault,Sylvie Bourthoumieu,Melanie Fradin,Guilhem Sole,Fanny Duval,Constantin Gomes,Frederic Favreau,Franck Sturtz,Corinne Magdelaine,Anne-Sophie Lia

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2022）

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Key words
structural variants, Charcot-Marie-Tooth, KIF5A, NGS, CovCopCan
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