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A Polymorphic AT-repeat Causes Frequent Allele Dropout for an MME Mutational Hotspot Exon

Helle Hoyer,Hilde T. Hilmarsen,Raute Sunder-Plassmann,Geir J. Braathen,Peter M. Andersen,Christian Beetz,Sandra Hacker,Oystein L. Holla,Ingo Kurth,Wolfgang N. Loescher,Simone B. C. F. Reiter,Sabine Rudnik-Schoeneborn,Linda Strand,Reinhard Windhager,Martina Witsch-Baumgartner,Jan Senderek,Michaela Auer-Grumbach

Journal of Medical Genetics（2022）

Cited 1|Views35
Key words
allelic imbalance,DNA repeat expansion,neuromuscular diseases,sequence analysis,DNA,human genetics
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