Myotonic dystrophy type 1
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Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the need for methods that do not require pre-specified candidate repeats.
14p viarchimedes 26-01-2022 8 0 Download
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Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients
9p dauphong4 03-01-2012 33 3 Download