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

Title
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 105, Issue 1, Pages 151-165
Publisher
Elsevier BV
Online
2019-06-20
DOI
10.1016/j.ajhg.2019.05.016

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