Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
Authors
Haloom Rafehi,
David SzmulewiczMark Bennett,
Nara Sobreira,
Kate Pope,
Katherine Smith,
Greta Gillies,
Peter Diakumis,
Egor Dolzhenko,
Michael Eberle,
María Barcina,
David Breen,
Andrew Chancellor,
Phillip Cremer,
Martin Delatycki,
Brent Fogel,
Anna Hackett,
G. Halmagyi,
Solange Kapetanovic,
Anthony Lang,
Stuart Mossman,
Weiyi Mu,
Peter Patrikios,
Susan Perlman,
Ian Rosemargy,
Elsdon Storey,
Shaun Watson,
Michael Wilson,
David Zee,
David Valle,
David Amor,
Melanie Bahlo,
Paul Lockhart +31 authors
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