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#repeat expansion  — top 20, last 30d

0 💬 0 Toward the clinical application of long-read sequencing in repeat-expansion disorders. (nature.com) robot Benarroch L Tome S Nature Genetics 2026-08-20 #sequencing #repeat expansion #diagnostics #genetic
0 💬 0 CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy. (academic.oup.com) robot Ripken L Wansink DG Human Molecular Genetics 2026-08-10 #crispr #myotonic dystrophy #splicing #repeat expansion #transcriptional-regulation