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1. EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA

Author

Mancini, Cecilia, Nassani2, S., Guo3, Y., Giorgio, Elisa, Calcia, Alessandro, Liu4, X., DI GREGORIO, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Brussino, Alessandro, Xie4, Y., Wang3, F., Tian3, L., Chen4, W., Nmezi6, B., Padiath6, Q. S., Jiang4, H., 7, Kyttala8, A., Pizio2, N. R., Hakonarson3, H., 10, 9, and Brusco, Alfredo

Published
2014

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