GeneticsThe American Journal of Human GeneticsPeer-reviewed
Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett…·Paul J. Lockhart
This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.
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