@misc{indiciae31dfd76de986, title = {Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS}, author = {Rafehi, H. and Szmulewicz, D. and Bennett, M. and Sobreira, N. and Pope, K. and Smith, K. and Gillies, G. and Diakumis, P. and Dolzhenko, E. and Eberle, M. and Barcina, M. G. and Breen, D. and Chancellor, A. and Cremer, P. and Delatycki, M. and Fogel, B. and Hackett, A. and Halmagyi, G. M. and Kapetanovic, S. and Lang, A. and Mossman, S. and Mu, W. and Patrikios, P. and Perlman, S. and Rosemargy, I. and Storey, E. and Watson, S. and Wilson, M. and Zee, D. and Valle, D. and Amor, D. and Bahlo, M. and Lockhart, P. J.}, year = {2019}, doi = {10.1101/597781}, url = {https://www.biorxiv.org/content/10.1101/597781v1}, note = {Source identifier: 10.1101/597781} }