New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

by Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Published 2021-01-01