Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L.M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew M. Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmagyi, Solange Kapetanovic, Anthony LangStuart Mossman, Weiyi Mu, Peter Patrikios, Susan L. Perlman, Ian Rosemergy, Elsdon Storey, Shaun R.D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

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